VIAF

Virtual International Authority File

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Leader 00000nz a2200037n 45 0
001 WKP|Q17322542 (VIAF cluster) (Authority/Source Record)
003 WKP
005 20241221010653.0
008 241221nneanz||abbn n and d
035 ‎‡a (WKP)Q17322542‏
024 ‎‡a 0000-0002-7782-4169‏ ‎‡2 orcid‏
024 ‎‡a 7201863327‏ ‎‡2 scopus‏
035 ‎‡a (OCoLC)Q17322542‏
043 ‎‡c FR‏
046 ‎‡f 19630614‏
100 0 ‎‡a Jean-Laurent Casanova‏ ‎‡c hulumtues‏ ‎‡9 sq‏
375 ‎‡a 1‏ ‎‡2 iso5218‏
400 0 ‎‡a Jean-Laurent Casanova‏ ‎‡c pédiatre‏ ‎‡9 fr‏
400 0 ‎‡a Jean-Laurent Casanova‏ ‎‡c French pediatrician and immunologist‏ ‎‡9 en‏
400 0 ‎‡a Jean-Laurent Casanova‏ ‎‡c Frans arts‏ ‎‡9 nl‏
400 0 ‎‡a Jean-Laurent Casanova‏ ‎‡c forskare‏ ‎‡9 sv‏
400 0 ‎‡a Jean-Laurent Casanova‏ ‎‡c médicu francés‏ ‎‡9 ast‏
400 0 ‎‡a Jean-Laurent Casanova‏ ‎‡c französischer Mediziner‏ ‎‡9 de‏
400 0 ‎‡a Jean-Laurent Casanova‏ ‎‡c ricercatore‏ ‎‡9 it‏
400 0 ‎‡a Jean-Laurent Casanova‏ ‎‡c francuski lekarz, pediatra i immunolog‏ ‎‡9 pl‏
670 ‎‡a Author's 4 Primary immunodeficiency mutation databases‏
670 ‎‡a Author's A 1-year-old girl with a gain-of-function STAT1 mutation treated with hematopoietic stem cell transplantation‏
670 ‎‡a Author's A 23-Year Follow-Up of a Patient with Gain-of-Function IkB-Alpha Mutation and Stable Full Chimerism After Hematopoietic Stem Cell Transplantation‏
670 ‎‡a Author's A 44-Year-Old Female With Overwhelming Sepsis‏
670 ‎‡a Author's A Brief Historical Perspective on the Pathological Consequences of Excessive Type I Interferon Exposure In vivo‏
670 ‎‡a Author's A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNgamma in a compound heterozygous child‏
670 ‎‡a Author's A CIB1 Splice-Site Founder Mutation in Families with Typical Epidermodysplasia Verruciformis‏
670 ‎‡a Author's A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency‏
670 ‎‡a Author's A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance‏
670 ‎‡a Author's A Fast Procedure for the Detection of Defects in Toll-like Receptor Signaling‏
670 ‎‡a Author's A Founder Mutation Disrupts NF-κB Signaling by Inhibiting BCL10 and MALT1 Recruitment and Signalosome Formation‏
670 ‎‡a Author's A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis‏
670 ‎‡a Author's A gain-of-function RAC2 mutation is associated with bone-marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency‏
670 ‎‡a Author's A genome-wide association study of pulmonary tuberculosis in Morocco‏
670 ‎‡a Author's A genome-wide case-only test for the detection of digenic inheritance in human exomes‏
670 ‎‡a Author's A global effort to define the human genetics of protective immunity to SARS-CoV-2 infection‏
670 ‎‡a Author's A homozygous CARD9 mutation in a Brazilian patient with deep dermatophytosis‏
670 ‎‡a Author's A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency.‏
670 ‎‡a Author's A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium‏
670 ‎‡a Author's A human inborn error connects the α's‏
670 ‎‡a Author's A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency‏
670 ‎‡a Author's A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency‏
670 ‎‡a Author's A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes‏
670 ‎‡a Author's A major locus on chromosome 3p22 conferring predisposition to human herpesvirus 8 infection‏
670 ‎‡a Author's A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency‏
670 ‎‡a Author's A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant‏
670 ‎‡a Author's A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression‏
670 ‎‡a Author's A narrow repertoire of transcriptional modules responsive to pyogenic bacteria is impaired in patients carrying loss-of-function mutations in MYD88 or IRAK4‏
670 ‎‡a Author's A New Patient with Inherited TYK2 Deficiency‏
670 ‎‡a Author's A Note from the Editor-in-Chief, Deputy Editor, and Managing Editor‏
670 ‎‡a Author's A novel AIRE gene mutation in a patient with autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy revealed by alopecia areata.‏
670 ‎‡a Author's A novel developmental and immunodeficiency syndrome associated with intrauterine growth retardation and a lack of natural killer cells‏
670 ‎‡a Author's A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon‏
670 ‎‡a Author's A novel form of complete IL-12/IL-23 receptor beta1 deficiency with cell surface-expressed nonfunctional receptors‏
670 ‎‡a Author's A novel form of human STAT1 deficiency impairing early but not late responses to interferons‏
670 ‎‡a Author's A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy‏
670 ‎‡a Author's A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease‏
670 ‎‡a Author's A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection‏
670 ‎‡a Author's A novel kindred with inherited STAT2 deficiency and severe viral illness‏
670 ‎‡a Author's A novel mutation in the POLE2 gene causing combined immunodeficiency.‏
670 ‎‡a Author's A novel primary immunodeficiency with specific natural-killer cell deficiency maps to the centromeric region of chromosome 8.‏
670 ‎‡a Author's A Novel Recessive Mutation of Interferon-γ Receptor 1 in a Patient with Mycobacterium tuberculosis in Bone Marrow Aspirate‏
670 ‎‡a Author's A novel variant in the neutrophil cytosolic factor 2 (NCF2) gene results in severe disseminated BCG infectious disease: A clinical report and literature review‏
670 ‎‡a Author's A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease‏
670 ‎‡a Author's A partial form of recessive STAT1 deficiency in humans‏
670 ‎‡a Author's A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome‏
670 ‎‡a Author's A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside‏
670 ‎‡a Author's A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon‏
670 ‎‡a Author's A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity‏
670 ‎‡a Author's A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR‏
670 ‎‡a Author's A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells.‏
670 ‎‡a Author's A role for interleukin-12/23 in the maturation of human natural killer and CD56+ T cells in vivo‏
670 ‎‡a Author's A serpin shapes the extracellular environment to prevent influenza A virus maturation‏
670 ‎‡a Author's A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia‏
670 ‎‡a Author's A three-dimensional model of human lung development and disease from pluripotent stem cells.‏
670 ‎‡a Author's A toxic palmitoylation of Cdc42 enhances NF-κB signaling and drives a severe autoinflammatory syndrome‏
670 ‎‡a Author's A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS‏
670 ‎‡a Author's A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency‏
670 ‎‡a Author's A virus finds its natural killer‏
670 ‎‡a Author's Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease‏
670 ‎‡a Author's Actin polymerisation after FCγR stimulation of human fibroblasts is BCL10 independent.‏
670 ‎‡a Author's AD Hyper-IgE Syndrome Due to a Novel Loss-of-Function Mutation in STAT3: a Diagnostic Pursuit Won by Clinical Acuity‏
670 ‎‡a Author's Adaptive immunity by convergent evolution.‏
670 ‎‡a Author's Addressing diagnostic challenges in primary immunodeficiencies: laboratory evaluation of Toll-like receptor- and NF-κB-mediated immune responses‏
670 ‎‡a Author's Age-dependent association between pulmonary tuberculosis and common TOX variants in the 8q12-13 linkage region‏
670 ‎‡a Author's Age-dependent Mendelian predisposition to herpes simplex virus type 1 encephalitis in childhood‏
670 ‎‡a Author's Agranulocytose et déficit immunitaire transitoires après exposition fœtale à l'azathioprine et mésalazine‏
670 ‎‡a Author's Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.‏
670 ‎‡a Author's Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease‏
670 ‎‡a Author's Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD).‏
670 ‎‡a Author's An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis‏
670 ‎‡a Author's An autosomal dominant major gene confers predisposition to pulmonary tuberculosis in adults‏
670 ‎‡a Author's An eQTL variant of ZXDC is associated with IFN-γ production following Mycobacterium tuberculosis antigen-specific stimulation‏
670 ‎‡a Author's An essential role for the Zn2+ transporter ZIP7 in B cell development‏
670 ‎‡a Author's An international study examining therapeutic options used in treatment of Wiskott-Aldrich syndrome‏
670 ‎‡a Author's Analysis of the interleukin-12/interferon-γ pathway in children with non-tuberculous mycobacterial cervical lymphadenitis‏
670 ‎‡a Author's Anti-IFN-γ autoantibodies are strongly associated with HLA-DR*15:02/16:02 and HLA-DQ*05:01/05:02 across Southeast Asia‏
670 ‎‡a Author's Antigen-selected T-cell receptor diversity and self-nonself homology‏
670 ‎‡a Author's Approach to recurrent Herpes Simplex Encephalitis in children.‏
670 ‎‡a Author's Arid5a makes the IL-17A/F-responsive pathway less arid‏
670 ‎‡a Author's Association between IFNA genotype and the risk of sarcoidosis‏
670 ‎‡a Author's Association between SARS-CoV-2 infection and Kawasaki-like multisystem inflammatory syndrome: a retrospective matched case-control study, Paris, France, April to May 2020‏
670 ‎‡a Author's Association of IL12RB1 polymorphisms with pulmonary tuberculosis in adults in Morocco‏
670 ‎‡a Author's Association study of genes controlling IL-12-dependent IFN-γ immunity: STAT4 alleles increase risk of pulmonary tuberculosis in Morocco‏
670 ‎‡a Author's Auto-antibodies against type I IFNs in patients with life-threatening COVID-19‏
670 ‎‡a Author's Autoantibodies against cytokines: back to human genetics‏
670 ‎‡a Author's Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I‏
670 ‎‡a Author's Autoantibodies to interferon-gamma in a patient with selective susceptibility to mycobacterial infection and organ-specific autoimmunity‏
670 ‎‡a Author's Autoimmune Lymphoproliferative Syndrome Presenting with Invasive Streptococcus pneumoniae Infection‏
670 ‎‡a Author's Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients‏
670 ‎‡a Author's Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacteriosis and Tuberculosis in a BCG-Vaccinated South African Patient.‏
670 ‎‡a Author's Autosomal-dominant primary immunodeficiencies‏
670 ‎‡a Author's Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey‏
670 ‎‡a Author's Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis‏
670 ‎‡a Author's Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations‏
670 ‎‡a Author's Autosomal recessive Interleukin-1 receptor-associated kinase 4 deficiency in fourth-degree relatives‏
670 ‎‡a Author's B cell-helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen‏
670 ‎‡a Author's B cell-intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans‏
670 ‎‡a Author's Bacille Calmette-Guérin infection and disease with fatal outcome associated with a point mutation in the interleukin-12/interleukin-23 receptor beta-1 chain in two Mexican families.‏
670 ‎‡a Author's Bacillus Calmette Guérin triggers the IL-12/IFN-γ axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes‏
670 ‎‡a Author's BCG Moreau Vaccine Safety Profile and NK Cells-Double Protection Against Disseminated BCG Infection in Retrospective Study of BCG Vaccination in 52 Polish Children with Severe Combined Immunodeficiency‏
670 ‎‡a Author's BCG-osis and tuberculosis in a child with chronic granulomatous disease‏
670 ‎‡a Author's Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies‏
670 ‎‡a Author's Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction‏
670 ‎‡a Author's Biased amino acid distributions in regions of the T cell receptors and MHC molecules potentially involved in their association.‏
670 ‎‡a Author's Binding of low concentration of peptide to H-2Kd produced in insect cells requires mouse beta 2-microglobulin co-expression‏
670 ‎‡a Author's Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis‏
670 ‎‡a Author's Burkholderia pseudomallei infection in chronic granulomatous disease‏
670 ‎‡a Author's Can primary immunodeficiencies help to provide insights into infectious risks of therapeutic antibodies?‏
670 ‎‡a Author's Can the impact of human genetic variations be predicted?‏
670 ‎‡a Author's Candidate Predisposition Variants in Kaposi Sarcoma as Detected by Whole-Genome Sequencing‏
670 ‎‡a Author's Capturing the biology of disease severity in a PSC-based model of familial dysautonomia‏
670 ‎‡a Author's CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency.‏
670 ‎‡a Author's Cellular and humoral aberrations in a kindred with IL-1 receptor–associated kinase 4 deficiency‏
670 ‎‡a Author's Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery‏
670 ‎‡a Author's Chorioretinal lesions as the unique feature of complete chronic granulomatous disease in an 8-year-old girl‏
670 ‎‡a Author's Chronic and Invasive Fungal Infections in a Family with CARD9 Deficiency‏
670 ‎‡a Author's Chronic Disseminated Salmonellosis in a Patient with Interleukin- 12p40 Deficiency‏
670 ‎‡a Author's Chronic granulomatous disease in Morocco: genetic, immunological, and clinical features of 12 patients from 10 kindreds‏
670 ‎‡a Author's Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β‏
670 ‎‡a Author's Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity‏
670 ‎‡a Author's Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity‏
670 ‎‡a Author's Classic Kaposi sarcoma in 3 unrelated Turkish children born to consanguineous kindreds‏
670 ‎‡a Author's Cleaved/associated TLR3 represents the primary form of the signaling receptor‏
670 ‎‡a Author's Clinical consequences of defects in the IL-12-dependent interferon-gamma‏
670 ‎‡a Author's Clinical consequences of defects in the IL-12-dependent interferon-gamma (IFN-gamma) pathway‏
670 ‎‡a Author's Clinical disease caused by Klebsiella in 2 unrelated patients with interleukin 12 receptor beta1 deficiency‏
670 ‎‡a Author's Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency‏
670 ‎‡a Author's Clinical features of Candidiasis in patients with inherited interleukin 12 receptor β1 deficiency‏
670 ‎‡a Author's Clinical features of dominant and recessive interferon γ receptor 1 deficiencies‏
670 ‎‡a Author's Clinical immunology Disseminated Mycobacterium tuberculosis complex infection in a girl with partial dominant IFN-γ receptor 1 deficiency‏
670 ‎‡a Author's Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study‏
670 ‎‡a Author's Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor beta1 deficiency.‏
670 ‎‡a Author's Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency‏
670 ‎‡a Author's Comment on "Impaired priming and activation of the neutrophil NADPH oxidase in patients with IRAK4 or NEMO deficiency".‏
670 ‎‡a Author's Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes‏
670 ‎‡a Author's Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation.‏
670 ‎‡a Author's Complete deficiency of the IL-12 receptor beta1 chain: three unrelated Turkish children with unusual clinical features‏
670 ‎‡a Author's Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy‏
670 ‎‡a Author's Congenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 module‏
670 ‎‡a Author's Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome‏
670 ‎‡a Author's Correction: Self-reactive VH4-34-expressing IgG B cells recognize commensal bacteria‏
670 ‎‡a Author's Correction to: Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee‏
670 ‎‡a Author's Correction to: Life-Threatening Infections Due to Live-Attenuated Vaccines: Early Manifestations of Inborn Errors of Immunity‏
670 ‎‡a Author's Correction to: the IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic because of a Reinitiation of Translation‏
670 ‎‡a Author's Corrigendum: IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature.‏
670 ‎‡a Author's Corrigendum: Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome‏
670 ‎‡a Author's Corrigendum: Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency.‏
670 ‎‡a Author's Corrigendum to “Inborn errors of IL-12/23- and IFN-γ-mediated immunity: Molecular, cellular, and clinical features” [Semin. Immunol. 18 (2006) 347–361]‏
670 ‎‡a Author's Cutaneous infection with Metarhizium anisopliae in a patient with hypohidrotic ectodermal dysplasia and immune deficiency‏
670 ‎‡a Author's Cutaneous leukocytoclastic vasculitis in a child with interleukin-12 receptor beta-1 deficiency‏
670 ‎‡a Author's Cutting edge: the UNC93B1 tyrosine-based motif regulates trafficking and TLR responses via separate mechanisms‏
670 ‎‡a Author's De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy‏
670 ‎‡a Author's Deciphering Human Cell-Autonomous Anti-HSV-1 Immunity in the Central Nervous System‏
670 ‎‡a Author's Dedicator of cytokinesis 8-deficient CD4+ T cells are biased to a TH2 effector fate at the expense of TH1 and TH17 cells.‏
670 ‎‡a Author's Deep dermatophytosis and inherited CARD9 deficiency‏
670 ‎‡a Author's Defective priming of the phagocyte oxidative burst in a child with recurrent intracellular infections‏
670 ‎‡a Author's Defects in the CD19 complex predispose to glomerulonephritis, as well as IgG1 subclass deficiency‏
670 ‎‡a Author's Deficiency of Interleukin-1 Receptor Antagonist: A Case with Late Onset Severe Inflammatory Arthritis, Nail Psoriasis with Onychomycosis and Well Responsive to Adalimumab Therapy‏
670 ‎‡a Author's Deficiency of interleukin-1 receptor-associated kinase 4 presenting as fatal Pseudomonas aeruginosa bacteremia in two siblings‏
670 ‎‡a Author's Defining risk groups to yellow fever vaccine-associated viscerotropic disease in the absence of denominator data‏
670 ‎‡a Author's Definition of primary immunodeficiency in 2011: a “trialogue” among friends‏
670 ‎‡a Author's Diagnostic and therapeutic challenges in a child with complete interferon-γ receptor 1 deficiency‏
670 ‎‡a Author's Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders‏
670 ‎‡a Author's Differential response to interferon-γ therapy in a family with dominant negative partial interferon-γ receptor1 deficiency‏
670 ‎‡a Author's Dimethyl Fumarate Disrupts Human Innate Immune Signaling by Targeting the IRAK4-MyD88 Complex‏
670 ‎‡a Author's Discovery of single-gene inborn errors of immunity by next generation sequencing‏
670 ‎‡a Author's Disentangling inborn and acquired immunity in human twins‏
670 ‎‡a Author's Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency‏
670 ‎‡a Author's Disseminated bacillus Calmette-Guérin infection and immunodeficiency‏
670 ‎‡a Author's Disseminated Bacillus Calmette-Guérin Osteomyelitis in Twin Sisters Related to STAT1 Gene Deficiency.‏
670 ‎‡a Author's Disseminated BCG Infectious Disease and Hyperferritinemia in a Patient With a Novel NEMO Mutation‏
670 ‎‡a Author's Disseminated BCG osteomyelitis related to STAT 1 gene deficiency mimicking a metastatic neuroblastoma‏
670 ‎‡a Author's Disseminated Mycobacterial Disease in a Patient with 22q11.2 Deletion Syndrome: Case Report and Review of the Literature‏
670 ‎‡a Author's Disseminated Mycobacterium avium complex infection in a child with partial dominant interferon gamma receptor 1 deficiency in India‏
670 ‎‡a Author's Disseminated Mycobacterium avium infection in a 20-year-old female with partial recessive IFNgammaR1 deficiency‏
670 ‎‡a Author's Disseminated Mycobacterium avium infection in a patient with a novel mutation in the interleukin-12 receptor-beta1 chain‏
670 ‎‡a Author's Disseminated Mycobacterium peregrinum infection in a child with complete interferon-gamma receptor-1 deficiency‏
670 ‎‡a Author's Disseminated Mycobacterium scrofulaceum infection in a child with interferon-gamma receptor 1 deficiency‏
670 ‎‡a Author's Disseminated nontuberculous mycobacterial infection in a child with interferon-γ receptor 1 deficiency‏
670 ‎‡a Author's Disseminated Tuberculosis and Chronic Mucocutaneous Candidiasis in a Patient with a Gain-of-Function Mutation in Signal Transduction and Activator of Transcription 1.‏
670 ‎‡a Author's Do not let them slip through the net: Catching a case of leaky severe combined immunodeficiency‏
670 ‎‡a Author's DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice‏
670 ‎‡a Author's DOCK8 Drives Src-Dependent NK Cell Effector Function‏
670 ‎‡a Author's Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome‏
670 ‎‡a Author's Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease‏
670 ‎‡a Author's Double-strand break repair through homologous recombination in autosomal-recessive BCL10 deficiency‏
670 ‎‡a Author's Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.‏
670 ‎‡a Author's Early-Onset Invasive Infection Due to Corynespora cassiicola Associated with Compound Heterozygous CARD9 Mutations in a Colombian Patient‏
670 ‎‡a Author's Early ''relapse'' after herpetic encephalitis: extensive white matter lesions in an infant with interferon production deficit‏
670 ‎‡a Author's Editorial‏
670 ‎‡a Author's Editorial for JoCI.‏
670 ‎‡a Author's Editorial, Journal of Clinical Immunology‏
670 ‎‡a Author's Effectiveness and safety of ruxolitinib for the treatment of refractory systemic idiopathic juvenile arthritis like associated with interstitial lung disease: a case report‏
670 ‎‡a Author's Efficacy of Dupilumab for Controlling Severe Atopic Dermatitis in a Patient with Hyper-IgE Syndrome‏
670 ‎‡a Author's Efficacy of gene therapy for X-linked severe combined immunodeficiency‏
670 ‎‡a Author's Enteroviral meningoencephalitis after anti-CD20 (rituximab) treatment‏
670 ‎‡a Author's ENTEROVIRAL MENINGOENCEPHALITIS IN X-LINKED AGAMMAGLOBULINEMIA: INTENSIVE IMMUNOGLOBULIN THERAPY AND SEQUENTIAL VIRAL DETECTION IN CEREBROSPINAL FLUID BY POLYMERASE CHAIN REACTION‏
670 ‎‡a Author's Epidermodysplasia Verruciformis: Genetic Heterogeneity and EVER1 and EVER2 Mutations Revealed by Genome-Wide Analysis‏
670 ‎‡a Author's Epidermodysplasia Verruciformis: Inborn Errors of Immunity to Human Beta-Papillomaviruses.‏
670 ‎‡a Author's Epithelial barrier dysfunction in desmoglein-1 deficiency‏
670 ‎‡a Author's Erratum: Corrigendum: B cell–helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen‏
670 ‎‡a Author's Erratum: Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation‏
670 ‎‡a Author's Erratum to: Chronic and Invasive Fungal Infections in a Family with CARD9 Deficiency‏
670 ‎‡a Author's Erratum to: Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA‏
670 ‎‡a Author's Essential role of nuclear factor-kappaB for NADPH oxidase activity in normal and anhidrotic ectodermal dysplasia leukocytes‏
670 ‎‡a Author's EVER2 deficiency is associated with mild T-cell abnormalities‏
670 ‎‡a Author's Evolution of the Definition of Primary Immunodeficiencies‏
670 ‎‡a Author's Evolutionary dynamics of human Toll-like receptors and their different contributions to host defense‏
670 ‎‡a Author's Evolutionary genetic dissection of human interferons‏
670 ‎‡a Author's Evolutionary insights into the high worldwide prevalence of MBL2 deficiency alleles‏
670 ‎‡a Author's Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis‏
670 ‎‡a Author's Experimental and natural infections in MyD88- and IRAK-4-deficient mice and humans‏
670 ‎‡a Author's Expression and characterization of recombinant mouse beta 2-microglobulin type a in insect cells infected with recombinant baculoviruses‏
670 ‎‡a Author's Extensive structural homology between H-2 K/D/L antigens and non-polymorphic class I Qa, Tla and “37” molecules suggests they may act as peptide carriers‏
670 ‎‡a Author's Familial NK cell deficiency associated with impaired IL-2- and IL-15-dependent survival of lymphocytes‏
670 ‎‡a Author's FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function‏
670 ‎‡a Author's Fatal Cytomegalovirus Infection in an Adult with Inherited NOS2 Deficiency‏
670 ‎‡a Author's Fatal varicella associated with selective natural killer cell deficiency‏
670 ‎‡a Author's Forward genetics of infectious diseases: immunological impact‏
670 ‎‡a Author's From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine Deaminase Deficiency: Unraveling an Inherited Immunodeficiency after 50 Years‏
670 ‎‡a Author's From idiopathic infectious diseases to novel primary immunodeficiencies‏
670 ‎‡a Author's From infectious diseases to primary immunodeficiencies‏
670 ‎‡a Author's Functional analysis of two STAT1 gain-of-function mutations in two Iranian families with autosomal dominant chronic mucocutaneous candidiasis‏
670 ‎‡a Author's Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8(K108E) mutation‏
670 ‎‡a Author's Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis‏
670 ‎‡a Author's Functional STAT3 deficiency compromises the generation of human T follicular helper cells.‏
670 ‎‡a Author's [Fungal infections and congenital immune deficiencies].‏
670 ‎‡a Author's Génétique humaine de la tuberculose: un spectre continu de la prédisposition monogénique simple à l'hérédité polygénique complexe‏
670 ‎‡a Author's Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis‏
670 ‎‡a Author's Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections.‏
670 ‎‡a Author's Gain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies.‏
670 ‎‡a Author's Gain-of-glycosylation mutations‏
670 ‎‡a Author's Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations‏
670 ‎‡a Author's Gains of glycosylation mutations‏
670 ‎‡a Author's Gamma interferon is dispensable for neopterin production in vivo‏
670 ‎‡a Author's Genetic and molecular definition of complementation group D in MHC class II deficiency‏
670 ‎‡a Author's Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency‏
670 ‎‡a Author's Genetic dissection of immunity in leprosy‏
670 ‎‡a Author's Genetic dissection of immunity to mycobacteria: the human model‏
670 ‎‡a Author's Genetic errors of the human caspase recruitment domain-B-cell lymphoma 10-mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (CBM) complex: Molecular, immunologic, and clinical heterogeneity‏
670 ‎‡a Author's Genetic heterogeneity of Mendelian susceptibility to mycobacterial infection‏
670 ‎‡a Author's Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency‏
670 ‎‡a Author's Genetic, Immunological, and Clinical Features of the First Mexican Cohort of Patients with Chronic Granulomatous Disease‏
670 ‎‡a Author's Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases‏
670 ‎‡a Author's Genetic predisposition to clinical tuberculosis: bridging the gap between simple and complex inheritance‏
670 ‎‡a Author's Genetic predisposition to herpetic meningo-encephalitis in children‏
670 ‎‡a Author's Genetic susceptibility to herpes simplex virus 1 encephalitis in mice and humans‏
670 ‎‡a Author's Genetics and immunity of tuberculosis‏
670 ‎‡a Author's Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection‏
670 ‎‡a Author's Genome-wide Innate Immune Responsiveness Profiles of Patients with Inborn Errors of Toll-like Receptor Signaling‏
670 ‎‡a Author's Genomic Signatures of Selective Pressures and Introgression from Archaic Hominins at Human Innate Immunity Genes‏
670 ‎‡a Author's Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease‏
670 ‎‡a Author's Glycosylation-Dependent IFN-γR Partitioning in Lipid and Actin Nanodomains Is Critical for JAK Activation.‏
670 ‎‡a Author's Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN-γ receptor-1 deficiency.‏
670 ‎‡a Author's Growth of Mycobacterium bovis, Bacille Calmette-Guérin, within human monocytes-macrophages cultured in serum-free medium‏
670 ‎‡a Author's Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies‏
670 ‎‡a Author's Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease‏
670 ‎‡a Author's Helper T cell immunity in humans with inherited CD4 deficiency‏
670 ‎‡a Author's Hematopoietic stem cell gene therapy for IFNγR1 deficiency protects mice from mycobacterial infections‏
670 ‎‡a Author's Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients‏
670 ‎‡a Author's Hematopoietic stem cell transplantation for complete IFN-γ receptor 1 deficiency: A multi-institutional survey‏
670 ‎‡a Author's Hematopoietic stem cell transplantation for Shwachman-Diamond syndrome: experience of the French neutropenia registry‏
670 ‎‡a Author's Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG / NEMO mutations.‏
670 ‎‡a Author's Hematopoietic stem cell transplantation in hemophagocytic lymphohistiocytosis: a single-center report of 48 patients‏
670 ‎‡a Author's Hematopoietic stem cell transplantation in patients with severe Langerhans cell histiocytosis and hematological dysfunction: Experience of the French Langerhans Cell Study Group‏
670 ‎‡a Author's Heritable defects of the human TLR signalling pathways‏
670 ‎‡a Author's Herpes in STAT1 gain-of-function mutation [corrected].‏
670 ‎‡a Author's Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency‏
670 ‎‡a Author's Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency‏
670 ‎‡a Author's Herpes simplex virus 2 encephalitis in a patient heterozygous for a TLR3 mutation‏
670 ‎‡a Author's Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity‏
670 ‎‡a Author's Herpes simplex virus encephalitis in human UNC-93B deficiency‏
670 ‎‡a Author's Heterogeneity in the granulomatous response to mycobacterial infection in patients with defined genetic mutations in the interleukin 12-dependent interferon-gamma production pathway‏
670 ‎‡a Author's Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis‏
670 ‎‡a Author's Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype‏
670 ‎‡a Author's Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood‏
670 ‎‡a Author's Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis‏
670 ‎‡a Author's HGCS: an online tool for prioritizing disease-causing gene variants by biological distance‏
670 ‎‡a Author's HHV-8-associated Kaposi sarcoma in a child with IFNgammaR1 deficiency‏
670 ‎‡a Author's High risk of infectious disease caused by salmonellae and mycobacteria infections in patients with Crohn disease treated with anti-interleukin-12 antibody‏
670 ‎‡a Author's Hodgkin lymphoma in 2 children with chronic granulomatous disease‏
670 ‎‡a Author's Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry‏
670 ‎‡a Author's Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis‏
670 ‎‡a Author's Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy‏
670 ‎‡a Author's Host genetics of mycobacterial diseases in mice and men: forward genetic studies of BCG-osis and tuberculosis‏
670 ‎‡a Author's Host genetics of severe influenza: from mouse Mx1 to human IRF7‏
670 ‎‡a Author's Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity.‏
670 ‎‡a Author's Human BCL10 Deficiency due to Homozygosity for a Rare Allele‏
670 ‎‡a Author's Human blood IgM "memory" B cells are circulating splenic marginal zone B cells harboring a prediversified immunoglobulin repertoire‏
670 ‎‡a Author's Human CD14dim monocytes patrol and sense nucleic acids and viruses via TLR7 and TLR8 receptors‏
670 ‎‡a Author's Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo‏
670 ‎‡a Author's Human CRY1 variants associate with attention deficit/hyperactivity disorder‏
670 ‎‡a Author's Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction‏
670 ‎‡a Author's Human genetic basis of interindividual variability in the course of infection‏
670 ‎‡a Author's Human Genetics of Infectious Diseases‏
670 ‎‡a Author's Human genetics of infectious diseases: a unified theory‏
670 ‎‡a Author's Human genetics of infectious diseases: between proof of principle and paradigm‏
670 ‎‡a Author's Human genetics of infectious diseases: Fundamental insights from clinical studies‏
670 ‎‡a Author's Human genetics of infectious diseases: Unique insights into immunological redundancy‏
670 ‎‡a Author's Human genetics of tuberculosis‏
670 ‎‡a Author's Human genetics of tuberculosis: a long and winding road‏
670 ‎‡a Author's Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia‏
670 ‎‡a Author's Human hyper-IgE syndrome: singular or plural?‏
670 ‎‡a Author's Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23‏
670 ‎‡a Author's Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification‏
670 ‎‡a Author's Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee‏
670 ‎‡a Author's Human inborn errors of immunity: An expanding universe‏
670 ‎‡a Author's Human inborn errors of immunity to herpes viruses‏
670 ‎‡a Author's Human inborn errors of immunity to infection affecting cells other than leukocytes: from the immune system to the whole organism‏
670 ‎‡a Author's Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation‏
670 ‎‡a Author's Human iPSC-derived trigeminal neurons lack constitutive TLR3-dependent immunity that protects cortical neurons from HSV-1 infection‏
670 ‎‡a Author's Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency‏
670 ‎‡a Author's Human Lentiviral Gene Therapy Restores the Cellular Phenotype of Autosomal Recessive Complete IFN-γR1 Deficiency‏
670 ‎‡a Author's Human leucocyte antigen-identical haematopoietic stem cell transplantation in major histocompatiblity complex class II immunodeficiency: reduced survival correlates with an increased incidence of acute graft-versus-host disease and pre-existing viral‏
670 ‎‡a Author's Human Mannose-binding Lectin in Immunity: Friend, Foe, or Both?‏
670 ‎‡a Author's Human monogenic disorders that confer predisposition to specific infections.‏
670 ‎‡a Author's Human plasma cells express granzyme B.‏
670 ‎‡a Author's Human primary immunodeficiencies of type I interferons‏
670 ‎‡a Author's Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections‏
670 ‎‡a Author's Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis‏
670 ‎‡a Author's Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy‏
670 ‎‡a Author's Human studies at JEM: Immunology and beyond‏
670 ‎‡a Author's Human T-bet Governs Innate and Innate-like Adaptive IFN-γ Immunity against Mycobacteria‏
670 ‎‡a Author's Human TBK1: A Gatekeeper of Neuroinflammation‏
670 ‎‡a Author's Human TBK1 is required for early autophagy induction upon HSV1 infection‏
670 ‎‡a Author's Human TET2 bridges cancer and immunity‏
670 ‎‡a Author's Human TLR-7-, -8-, and -9-mediated induction of IFN-alpha/beta and -lambda Is IRAK-4 dependent and redundant for protective immunity to viruses‏
670 ‎‡a Author's Human TLRs and IL-1Rs in host defense: natural insights from evolutionary, epidemiological, and clinical genetics‏
670 ‎‡a Author's Human Toll-like receptor-dependent induction of interferons in protective immunity to viruses‏
670 ‎‡a Author's Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis‏
670 ‎‡a Author's Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome‏
670 ‎‡a Author's Identification of a major locus, TNF1, that controls BCG-triggered tumor necrosis factor production by leukocytes in an area hyperendemic for tuberculosis‏
670 ‎‡a Author's Identification of an Endoglin Variant Associated With HCV-Related Liver Fibrosis Progression by Next-Generation Sequencing‏
670 ‎‡a Author's IFN-gamma and IL-12 differentially regulate CC-chemokine secretion and CCR5 expression in human T lymphocytes‏
670 ‎‡a Author's IFN-gamma mediates the rejection of haematopoietic stem cells in IFN-gammaR1-deficient hosts‏
670 ‎‡a Author's IFN-gamma regulates Fas ligand expression in human CD4+ T lymphocytes and controls their anti-mycobacterial cytotoxic functions‏
670 ‎‡a Author's IFN-γ and CD25 drive distinct pathologic features during hemophagocytic lymphohistiocytosis‏
670 ‎‡a Author's IGF1R is an entry receptor for respiratory syncytial virus‏
670 ‎‡a Author's IgM+IgD+CD27+ B cells are markedly reduced in IRAK-4-, MyD88-, and TIRAP- but not UNC-93B-deficient patients‏
670 ‎‡a Author's IL-12 and IFN-gamma in host defense against mycobacteria and salmonella in mice and men.‏
670 ‎‡a Author's IL-12 and IL-23 cytokines: from discovery to targeted therapies for immune-mediated inflammatory diseases.‏
670 ‎‡a Author's IL-12 drives functional plasticity of human group 2 innate lymphoid cells‏
670 ‎‡a Author's IL-12 receptor β1 deficiency alters in vivo T follicular helper cell response in humans‏
670 ‎‡a Author's IL-12Rβ1 defect presenting with massive intraabdominal lymphadenopathy due to Mycobacterium intracellulare: A case report.‏
670 ‎‡a Author's IL-12Rβ1 Deficiency and Disseminated Mycobacterium tilburgii Disease‏
670 ‎‡a Author's IL-12Rβ1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey‏
670 ‎‡a Author's IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database‏
670 ‎‡a Author's IL-17 T cells' defective differentiation in vitro despite normal range ex vivo in chronic mucocutaneous candidiasis due to STAT1 mutation‏
670 ‎‡a Author's IL-21 signalling via STAT3 primes human naive B cells to respond to IL-2 to enhance their differentiation into plasmablasts.‏
670 ‎‡a Author's Immigration in science‏
670 ‎‡a Author's Immunity to infection in IL-17-deficient mice and humans‏
670 ‎‡a Author's IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations‏
670 ‎‡a Author's Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency‏
670 ‎‡a Author's Immunologic aspects of patients with disseminated bacille Calmette-Guerin disease in north-west of Iran‏
670 ‎‡a Author's Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind‏
670 ‎‡a Author's Immunology. Autoimmunity by haploinsufficiency‏
670 ‎‡a Author's Immunology in natura: clinical, epidemiological and evolutionary genetics of infectious diseases‏
670 ‎‡a Author's Immunology taught by human genetics‏
670 ‎‡a Author's Impaired IL-12- and IL-23-Mediated Immunity Due to IL-12Rβ1 Deficiency in Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease‏
670 ‎‡a Author's Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells‏
670 ‎‡a Author's Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency‏
670 ‎‡a Author's Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation‏
670 ‎‡a Author's Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency‏
670 ‎‡a Author's Importance of T cells, gamma interferon, and tumor necrosis factor in immune control of the rapid grower Mycobacterium abscessus in C57BL/6 mice‏
670 ‎‡a Author's Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections‏
670 ‎‡a Author's Inborn errors of anti-viral interferon immunity in humans‏
670 ‎‡a Author's Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis‏
670 ‎‡a Author's Inborn errors of human JAKs and STATs‏
670 ‎‡a Author's Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes‏
670 ‎‡a Author's Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features‏
670 ‎‡a Author's Inborn errors of immunity to infection: the rule rather than the exception‏
670 ‎‡a Author's Inborn errors of immunity underlying fungal diseases in otherwise healthy individuals‏
670 ‎‡a Author's Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-alpha/beta, IFN-gamma, and IFN-lambda in host defense‏
670 ‎‡a Author's Inborn errors of metabolism underlying primary immunodeficiencies‏
670 ‎‡a Author's Inborn errors of mucocutaneous immunity to Candida albicans in humans: a role for IL-17 cytokines?‏
670 ‎‡a Author's Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection‏
670 ‎‡a Author's Inborn errors of the development of human natural killer cells‏
670 ‎‡a Author's Inborn errors of type I IFN immunity in patients with life-threatening COVID-19‏
670 ‎‡a Author's Inborn errors underlying herpes simplex encephalitis: From TLR3 to IRF3.‏
670 ‎‡a Author's Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated exons‏
670 ‎‡a Author's Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons‏
670 ‎‡a Author's Induced pluripotent stem cells: a novel frontier in the study of human primary immunodeficiencies‏
670 ‎‡a Author's Induction of MxA gene expression by influenza A virus requires type I or type III interferon signaling‏
670 ‎‡a Author's Infection disséminée idiopathoqieu par le BCG ou les mycobactéries atypiques‏
670 ‎‡a Author's Infection multifocale à Mycobacterium intracellulare: premier cas de déficit partiel dominant du récepteur de l'interféron gamma en milieu tropical français‏
670 ‎‡a Author's Infections caused by BCG and atypical mycobacteria in children: a new group of immune deficiencies‏
670 ‎‡a Author's Infections Due to Various Atypical Mycobacteria in a Norwegian Multiplex Family with Dominant Interferon- Receptor Deficiency‏
670 ‎‡a Author's Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency‏
670 ‎‡a Author's Infectious diseases, autoimmunity and midline defect in a patient with a novel bi-allelic mutation in IL12RB1 gene.‏
670 ‎‡a Author's Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IκBα deficiency‏
670 ‎‡a Author's Inheritable defects in interleukin-12- and interferon-gamma-mediated immunity and the TH1/TH2 paradigm in man.‏
670 ‎‡a Author's Inherited and acquired immunodeficiencies underlying tuberculosis in childhood‏
670 ‎‡a Author's Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity‏
670 ‎‡a Author's Inherited CARD9 deficiency in 2 unrelated patients with invasive Exophiala infection‏
670 ‎‡a Author's Inherited CARD9 Deficiency in a Patient with Both Exophiala spinifera and Aspergillus nomius Severe Infections‏
670 ‎‡a Author's Inherited CARD9 deficiency in otherwise healthy children and adults with Candida species-induced meningoencephalitis, colitis, or both‏
670 ‎‡a Author's Inherited CARD9 Deficiency: Invasive Disease Caused by Ascomycete Fungi in Previously Healthy Children and Adults‏
670 ‎‡a Author's Inherited defects in the interferon-gamma receptor or interleukin-12 signalling pathways are not sufficient to cause allergic disease in children.‏
670 ‎‡a Author's Inherited disorders of cytokines‏
670 ‎‡a Author's Inherited disorders of human Toll-like receptor signaling: immunological implications.‏
670 ‎‡a Author's Inherited disorders of IFN-γ-, IFN-α/β-, and NF-κB-mediated immunity‏
670 ‎‡a Author's Inherited disorders of IL-12- and IFNγ-mediated immunity: a molecular genetics update‏
670 ‎‡a Author's Inherited disorders of NF-kappaB-mediated immunity in man.‏
670 ‎‡a Author's Inherited disorders of the IL-12-IFN-gamma axis in patients with disseminated BCG infection‏
670 ‎‡a Author's Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections‏
670 ‎‡a Author's Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency‏
670 ‎‡a Author's Inherited human IFNγ deficiency underlies mycobacterial disease‏
670 ‎‡a Author's Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts‏
670 ‎‡a Author's Inherited human IRAK-4 deficiency: an update.‏
670 ‎‡a Author's Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood‏
670 ‎‡a Author's Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines‏
670 ‎‡a Author's Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds‏
670 ‎‡a Author's Inherited IL-12Rβ1 Deficiency in a Child With BCG Adenitis and Oral Candidiasis: A Case Report‏
670 ‎‡a Author's Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis‏
670 ‎‡a Author's Inherited IL-18BP deficiency in human fulminant viral hepatitis.‏
670 ‎‡a Author's Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.‏
670 ‎‡a Author's Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma‏
670 ‎‡a Author's Inherited MST1 deficiency underlies susceptibility to EV-HPV infections‏
670 ‎‡a Author's Inherited p40phox deficiency differs from classic chronic granulomatous disease‏
670 ‎‡a Author's Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child‏
670 ‎‡a Author's Interaction of Pattern Recognition Receptors with Mycobacterium Tuberculosis‏
670 ‎‡a Author's Interferon- <b>γ</b> and infectious diseases: Lessons and prospects‏
670 ‎‡a Author's Interferon-gamma-dependent Immunity in Bacillus Calmette-Guérin Vaccine Osteitis Survivors‏
670 ‎‡a Author's Interferon gamma receptor 2 gene variants are associated with liver fibrosis in patients with chronic hepatitis C infection‏
670 ‎‡a Author's Interferon-γ receptor deficiency mimicking Langerhans’ cell histiocytosis‏
670 ‎‡a Author's Interleukin 1/Toll-like receptor-induced autophosphorylation activates interleukin 1 receptor-associated kinase 4 and controls cytokine induction in a cell type-specific manner‏
670 ‎‡a Author's Interleukin-12 receptor beta 1 chain deficiency in a child with disseminated tuberculosis‏
670 ‎‡a Author's Interleukin-12 receptor beta1 deficiency presenting as recurrent Salmonella infection‏
670 ‎‡a Author's Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis‏
670 ‎‡a Author's Interleukin (IL)-12 and IL-23 are key cytokines for immunity against Salmonella in humans‏
670 ‎‡a Author's Interleukin receptor-associated kinase‏
670 ‎‡a Author's Interleukin receptor-associated kinase (IRAK-4) deficiency associated with bacterial infections and failure to sustain antibody responses‏
670 ‎‡a Author's International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity.‏
670 ‎‡a Author's Intrafamilial phenotypic variability of osteopetrosis due to chloride channel 7‏
670 ‎‡a Author's Intrafamilial phenotypic variability of osteopetrosis due to chloride channel 7 (CLCN7) mutations‏
670 ‎‡a Author's Introduction‏
670 ‎‡a Author's Invasive pneumococcal disease in children can reveal a primary immunodeficiency‏
670 ‎‡a Author's IRAK-4 and MyD88 deficiencies impair IgM responses against T-independent bacterial antigens‏
670 ‎‡a Author's IRAK-4- and MyD88-dependent pathways are essential for the removal of developing autoreactive B cells in humans‏
670 ‎‡a Author's IRAK-4 mutation‏
670 ‎‡a Author's IRAK-4 mutation (Q293X): rapid detection and characterization of defective post-transcriptional TLR/IL-1R responses in human myeloid and non-myeloid cells‏
670 ‎‡a Author's IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease‏
670 ‎‡a Author's IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature‏
670 ‎‡a Author's IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation‏
670 ‎‡a Author's IRAK4 kinase activity is redundant for interleukin-1 (IL-1) receptor-associated kinase phosphorylation and IL-1 responsiveness‏
670 ‎‡a Author's IRF4 haploinsufficiency in a family with Whipple's disease.‏
670 ‎‡a Author's IRF8 mutations and human dendritic-cell immunodeficiency‏
670 ‎‡a Author's ISG15: leading a double life as a secreted molecule‏
670 ‎‡a Author's Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases‏
670 ‎‡a Author's JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency‏
670 ‎‡a Author's Kaposi’s sarcoma in a child with Wiskott-Aldrich syndrome‏
670 ‎‡a Author's Kaposi Sarcoma of Childhood: Inborn or Acquired Immunodeficiency to Oncogenic HHV-8‏
670 ‎‡a Author's Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletion.‏
670 ‎‡a Author's Kawasaki-like multisystem inflammatory syndrome in children during the covid-19 pandemic in Paris, France: prospective observational study‏
670 ‎‡a Author's Laboratory diagnosis of specific antibody deficiency to pneumococcal capsular polysaccharide antigens by multiplexed bead assay‏
670 ‎‡a Author's Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.‏
670 ‎‡a Author's Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti‏
670 ‎‡a Author's Lessons learned from the study of human inborn errors of innate immunity‏
670 ‎‡a Author's Lethal Infectious Diseases as Inborn Errors of Immunity: Toward a Synthesis of the Germ and Genetic Theories‏
670 ‎‡a Author's Lethal Influenza in Two Related Adults with Inherited GATA2 Deficiency‏
670 ‎‡a Author's Lethal tuberculosis in a previously healthy adult with IL-12 receptor deficiency‏
670 ‎‡a Author's Leukocyte Adhesion Deficiency Type 1‏
670 ‎‡a Author's Leukocyte Adhesion Deficiency Type 1 (LAD1) with Expressed but Nonfunctional CD11/CD18.‏
670 ‎‡a Author's Life-Threatening COVID-19: Defective Interferons Unleash Excessive Inflammation‏
670 ‎‡a Author's Life-Threatening Infections Due to Live-Attenuated Vaccines: Early Manifestations of Inborn Errors of Immunity‏
670 ‎‡a Author's Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity?‏
670 ‎‡a Author's Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency‏
670 ‎‡a Author's LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency‏
670 ‎‡a Author's Listeria monocytogenes and recurrent mycobacterial infections in a child with complete interferon-gamma-receptor (IFNgammaR1) deficiency: mutational analysis and evaluation of therapeutic options‏
670 ‎‡a Author's Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency‏
670 ‎‡a Author's Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.‏
670 ‎‡a Author's Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications‏
670 ‎‡a Author's LUBAC: A new function in immunity‏
670 ‎‡a Author's Macrophages induce differentiation of plasma cells through CXCL10/IP-10‏
670 ‎‡a Author's Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients‏
670 ‎‡a Author's Major Loci on Chromosomes 8q and 3q Control Interferon γ Production Triggered by Bacillus Calmette-Guerin and 6-kDa Early Secretory Antigen Target, Respectively, in Various Populations‏
670 ‎‡a Author's Mechanism of dysfunction of human variants of the IRAK4 kinase and a role for its kinase activity in interleukin-1 receptor signaling‏
670 ‎‡a Author's Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency‏
670 ‎‡a Author's Mendelian predisposition to herpes simplex encephalitis‏
670 ‎‡a Author's Mendelian susceptibility to mycobacterial disease: 2014-2018 update‏
670 ‎‡a Author's Mendelian Susceptibility to Mycobacterial Disease Caused by a Novel Founder IL12B Mutation in Saudi Arabia.‏
670 ‎‡a Author's Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children‏
670 ‎‡a Author's Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity‏
670 ‎‡a Author's Mendelian susceptibility to mycobacterial disease in egyptian children‏
670 ‎‡a Author's Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients‏
670 ‎‡a Author's Mendelian susceptibility to mycobacterial infection in man‏
670 ‎‡a Author's Mendelian traits that confer predisposition or resistance to specific infections in humans‏
670 ‎‡a Author's Méningite à Bacillus cereus chez un nourrisson au décours d'un syndrome de Reye‏
670 ‎‡a Author's Microbial Disease Spectrum Linked to a Novel IL-12Rβ1 N-Terminal Signal Peptide Stop-Gain Homozygous Mutation with Paradoxical Receptor Cell-Surface Expression‏
670 ‎‡a Author's Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli ulcer.‏
670 ‎‡a Author's Molecular, Immunological, and Clinical Features of 16 Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease‏
670 ‎‡a Author's Molecular mechanisms of mucocutaneous immunity against Candida and Staphylococcus species.‏
670 ‎‡a Author's Monoclonal antibody-mediated neutralization of SARS-CoV-2 in an IRF9-deficient child‏
670 ‎‡a Author's Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies‏
670 ‎‡a Author's More than Meets the Eye: Monogenic Autoimmunity Strikes Again‏
670 ‎‡a Author's Most residues on the floor of the antigen binding site of the class I MHC molecule H-2Kd influence peptide presentation‏
670 ‎‡a Author's Mucocutaneous candidiasis and autoimmunity against cytokines in APECED and thymoma patients: clinical and pathogenetic implications‏
670 ‎‡a Author's Multibatch Cytometry Data Integration for Optimal Immunophenotyping‏
670 ‎‡a Author's Multicentric Castleman disease in an HHV8-infected child born to consanguineous parents with systematic review‏
670 ‎‡a Author's Multifocal Tuberculous osteomyelitis: possible inherited interferon gamma axis defect‏
670 ‎‡a Author's Multiple cutaneous squamous cell carcinomas in a patient with interferon gamma receptor 2‏
670 ‎‡a Author's Multiple cutaneous squamous cell carcinomas in a patient with interferon gamma receptor 2 (IFN gamma R2) deficiency.‏
670 ‎‡a Author's Mutation in IL36RN impairs the processing and regulatory function of the interleukin-36 receptor antagonist and is associated with DITRA syndrome.‏
670 ‎‡a Author's Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome‏
670 ‎‡a Author's Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells‏
670 ‎‡a Author's Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias‏
670 ‎‡a Author's Mutual alteration of NOD2-associated Blau syndrome and IFNγR1 deficiency‏
670 ‎‡a Author's Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency‏
670 ‎‡a Author's Mycobacterial disease in a child with surface-expressed non-functional interleukin-12Rbeta1 chains.‏
670 ‎‡a Author's Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases.‏
670 ‎‡a Author's MYCOBACTERIUM FORTUITUM-CHELONAE COMPLEX INFECTION IN A CHILD WITH COMPLETE INTERLEUKIN-12 RECEPTOR BETA 1 DEFICIENCY‏
670 ‎‡a Author's Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency‏
670 ‎‡a Author's Mycobacterium szulgai Chronic Multifocal Osteomyelitis in an Adolescent with Inherited STAT1 Deficiency‏
670 ‎‡a Author's Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells.‏
670 ‎‡a Author's NEMO is a key component of NF-κB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus.‏
670 ‎‡a Author's NEMO Mutations in 2 Unrelated Boys With Severe Infections and Conical Teeth‏
670 ‎‡a Author's New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.‏
670 ‎‡a Author's New frontiers in immunology. Workshop on the road ahead: future directions in fundamental and clinical immunology‏
670 ‎‡a Author's New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein‏
670 ‎‡a Author's Nonpathogenic Common Variants of IFNGR1 and IFNGR2 in Association with Total Serum IgE Levels‏
670 ‎‡a Author's Novel human immunodeficiencies reveal the essential role of type-I cytokines in immunity to intracellular bacteria‏
670 ‎‡a Author's Novel primary immunodeficiencies‏
670 ‎‡a Author's Novel primary immunodeficiencies relevant to internal medicine: novel phenotypes‏
670 ‎‡a Author's Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases‏
670 ‎‡a Author's Novel primary immunodeficiency candidate genes predicted by the human gene connectome‏
670 ‎‡a Author's Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease‏
670 ‎‡a Author's Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia‏
670 ‎‡a Author's Occurrence of Aortic Aneurysms in 5 Cases of Wiskott-Aldrich Syndrome‏
670 ‎‡a Author's Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase δ syndrome‏
670 ‎‡a Author's Oesophageal squamous cell carcinoma in a young adult with IL-12R beta 1 deficiency‏
670 ‎‡a Author's Optimal conditions for directly sequencing double-stranded PCR products with sequenase‏
670 ‎‡a Author's Orf Infection in a Patient with Stat1 Gain-of-Function‏
670 ‎‡a Author's Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother‏
670 ‎‡a Author's Outbreak of Kawasaki disease in children during COVID-19 pandemic: a prospective observational study in Paris, France‏
670 ‎‡a Author's Paracoccidioides brasiliensis Disseminated Disease in a Patient with Inherited Deficiency in the 1 Subunit of the Interleukin‏
670 ‎‡a Author's Paracoccidioides brasiliensis Disseminated Disease in a Patient with Inherited Deficiency in the 1 Subunit of the Interleukin (IL)-12/IL-23 Receptor‏
670 ‎‡a Author's Paracoccidioidomycosis Associated With a Heterozygous STAT4 Mutation and Impaired IFN-γ Immunity‏
670 ‎‡a Author's Parsing the Interferon Transcriptional Network and Its Disease Associations‏
670 ‎‡a Author's Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation‏
670 ‎‡a Author's Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency‏
670 ‎‡a Author's Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds‏
670 ‎‡a Author's Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis‏
670 ‎‡a Author's Past, Present, and Future of The Journal of Clinical Immunology, the International Journal of Inborn Errors of Immunity‏
670 ‎‡a Author's Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency‏
670 ‎‡a Author's Pathogenesis of infections in HIV-infected individuals: insights from primary immunodeficiencies‏
670 ‎‡a Author's [Pathological consequences of excess of interferon in vivo]‏
670 ‎‡a Author's Patient iPSC-Derived Macrophages to Study Inborn Errors of the IFN-γ Responsive Pathway‏
670 ‎‡a Author's PAX1 is essential for development and function of the human thymus‏
670 ‎‡a Author's Phagocyte nicotinamide adenine dinucleotide phosphate oxidase activity in patients with inherited IFN-γR1 or IFN-γR2 deficiency‏
670 ‎‡a Author's Phenotypic complementation of genetic immunodeficiency by chronic herpesvirus infection‏
670 ‎‡a Author's Pineal germinoma in a child with interferon-γ receptor 1 deficiency. case report and literature review‏
670 ‎‡a Author's PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations‏
670 ‎‡a Author's Posaconazole treatment of extensive skin and nail dermatophytosis due to autosomal recessive deficiency of CARD9.‏
670 ‎‡a Author's Pott's disease in Moroccan children: clinical features and investigation of the interleukin-12/interferon-γ pathway‏
670 ‎‡a Author's Prédisposition génétique à l’encéphalite herpétique chez l’enfant‏
670 ‎‡a Author's Prédisposition génétique et infections de l'enfant‏
670 ‎‡a Author's Prevalence and risk factors for latent tuberculosis infection among healthcare workers in Morocco‏
670 ‎‡a Author's Primary Cytomegalovirus Infection, Atypical Kawasaki Disease, and Coronary Aneurysms in 2 Infants‏
670 ‎‡a Author's Primary Immune Deficiencies Presenting in Adults: Seven Years of Experience from Iran‏
670 ‎‡a Author's Primary immunodeficiencies: 2009 update‏
670 ‎‡a Author's Primary immunodeficiencies: a field in its infancy‏
670 ‎‡a Author's Primary immunodeficiencies: a rapidly evolving story‏
670 ‎‡a Author's Primary immunodeficiencies associated with pneumococcal disease‏
670 ‎‡a Author's Primary immunodeficiencies: increasing market share‏
670 ‎‡a Author's Primary immunodeficiencies may reveal potential infectious diseases associated with immune-targeting mAb treatments‏
670 ‎‡a Author's Primary immunodeficiencies of protective immunity to primary infections‏
670 ‎‡a Author's Primary immunodeficiencies underlying fungal infections‏
670 ‎‡a Author's Primary immunodeficiency diseases: an update‏
670 ‎‡a Author's Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee‏
670 ‎‡a Author's Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005‏
670 ‎‡a Author's Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency‏
670 ‎‡a Author's Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.‏
670 ‎‡a Author's Primary immunodeficiency diseases: the J Project‏
670 ‎‡a Author's Primary immunodeficiency diseases worldwide: more common than generally thought‏
670 ‎‡a Author's Propionibacterium acnes Chest Infections in Patients with Chronic Granulomatous Disease: Case Reports‏
670 ‎‡a Author's Proteomics in immunity and herpes simplex encephalitis‏
670 ‎‡a Author's Publisher Correction: IGF1R is an entry receptor for respiratory syncytial virus‏
670 ‎‡a Author's Pulmonary manifestations of chronic granulomatous disease‏
670 ‎‡a Author's Purpura fulminans méningococcique: rencontre malheureuse de polymorphismes génétiques?‏
670 ‎‡a Author's Purulent pericarditis and colonic infiltrating to Salmonella enteritidis complicated by acute intussusception in a case of IL-12Rβ1 deficiency‏
670 ‎‡a Author's Pyogenic bacterial infections in humans with IRAK-4 deficiency‏
670 ‎‡a Author's Pyogenic bacterial infections in humans with MyD88 deficiency‏
670 ‎‡a Author's Real-time measurement of antigenic peptide binding to empty and preloaded single-chain major histocompatibility complex class I molecules‏
670 ‎‡a Author's Recalcitrant Warts, Epidermodysplasia Verruciformis, and the Tree-Man Syndrome: Phenotypic Spectrum of Cutaneous Human Papillomavirus Infections at the Intersection of Genetic Variability of Viral and Human Genomes‏
670 ‎‡a Author's Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS.‏
670 ‎‡a Author's Recurrent non-typhoidal salmonella bacteremia in a patient with interleukin -12p40 deficiency.‏
670 ‎‡a Author's Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.‏
670 ‎‡a Author's Recurrent Salmonella typhi Infection and Autoimmunity in a Young Boy with Complete IL-12 Receptor β1 Deficiency‏
670 ‎‡a Author's Recurrent Salmonellosis in a Child with Complete IL-12Rβ1 Deficiency‏
670 ‎‡a Author's Recurrent staphylococcal cellulitis and subcutaneous abscesses in a child with autoantibodies against IL-6.‏
670 ‎‡a Author's Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathy‏
670 ‎‡a Author's Renal failure associated with APECED and terminal 4q deletion: evidence of autoimmune nephropathy‏
670 ‎‡a Author's Requirement for both IL-12 and IFN-gamma signaling pathways in optimal IFN-gamma production by human T cells‏
670 ‎‡a Author's Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency‏
670 ‎‡a Author's Retroviral-mediated gene transfer restores IL-12 and IL-23 signaling pathways in T cells from IL-12 receptor beta1-deficient patients‏
670 ‎‡a Author's Revisiting Crohn's disease as a primary immunodeficiency of macrophages‏
670 ‎‡a Author's Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries‏
670 ‎‡a Author's Revisiting human primary immunodeficiencies‏
670 ‎‡a Author's Rhinoscleroma: a French national retrospective study of epidemiological and clinical features‏
670 ‎‡a Author's Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia‏
670 ‎‡a Author's Ruxolitinib Response in an Infant with Very-Early-Onset Inflammatory Bowel Disease and Gain-of-Function STAT1 Mutation‏
670 ‎‡a Author's Safety of hematopoietic stem cell transplantation from hepatitis B core antibodies-positive donors with low/undetectable viremia in HBV-naïve children.‏
670 ‎‡a Author's Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity‏
670 ‎‡a Author's Self-reactive VH4-34-expressing IgG B cells recognize commensal bacteria‏
670 ‎‡a Author's Septicemia without sepsis: inherited disorders of nuclear factor-kappa B-mediated inflammation‏
670 ‎‡a Author's SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data‏
670 ‎‡a Author's Severe aplastic anemia of neonatal onset: a single-center retrospective study of six children‏
670 ‎‡a Author's Severe BCG-osis Misdiagnosed as Multidrug-Resistant Tuberculosis in an IL-12Rβ1-Deficient Peruvian Girl‏
670 ‎‡a Author's Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV.‏
670 ‎‡a Author's Severe COVID-19 in the young and healthy: monogenic inborn errors of immunity?‏
670 ‎‡a Author's Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common gammac cytokine receptor subunit or JAK-3 deficiency‏
670 ‎‡a Author's Severe Enteropathy and Hypogammaglobulinemia Complicating Refractory Mycobacterium tuberculosis Complex Disseminated Disease in a Child with IL-12Rβ1 Deficiency.‏
670 ‎‡a Author's Severe infectious diseases of childhood as monogenic inborn errors of immunity‏
670 ‎‡a Author's Severe influenza pneumonitis in children with inherited TLR3 deficiency‏
670 ‎‡a Author's Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients‏
670 ‎‡a Author's Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA‏
670 ‎‡a Author's Shigella sonnei Meningitis Due to Interleukin-1 Receptor--Associated Kinase--4 Deficiency: First Association with a Primary Immune Deficiency‏
670 ‎‡a Author's Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8(+) T-cell memory formation and function.‏
670 ‎‡a Author's Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis‏
670 ‎‡a Author's Simultaneous presentation of 2 rare hereditary immunodeficiencies: IL-12 receptor beta1 deficiency and ataxia-telangiectasia.‏
670 ‎‡a Author's Single-cell PCR analysis of TCR repertoires selected by antigen in vivo: a high magnitude CD8 response is comprised of very few clones.‏
670 ‎‡a Author's Staphylococcal Pericarditis, and Liver and Paratracheal Abscesses as Presentations in Two New Cases of Interleukin-1 Receptor Associated Kinase 4 Deficiency‏
670 ‎‡a Author's STAT1 Gain-of-Function and Dominant Negative STAT3 Mutations Impair IL-17 and IL-22 Immunity Associated with CMC.‏
670 ‎‡a Author's STAT3 is a critical cell-intrinsic regulator of human unconventional T cell numbers and function‏
670 ‎‡a Author's Stem cell transplantation for immunodeficiency‏
670 ‎‡a Author's STING-Associated Vasculopathy with Onset in Infancy — A New Interferonopathy‏
670 ‎‡a Author's Successful hematopoietic stem cell transplantation from an unrelated donor in a child with interferon gamma receptor deficiency‏
670 ‎‡a Author's Successful hematopoietic stem cell transplantation in a child with active disseminated Mycobacterium fortuitum infection and interferon-γ receptor 1 deficiency‏
670 ‎‡a Author's Susceptibilité génétique et infection chez l’enfant‏
670 ‎‡a Author's Systemic Human ILC Precursors Provide a Substrate for Tissue ILC Differentiation.‏
670 ‎‡a Author's Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions‏
670 ‎‡a Author's T-cell defects in patients with germline mutations account for combined immunodeficiency‏
670 ‎‡a Author's T cell-dependent activation of dendritic cells requires IL-12 and IFN-gamma signaling in T cells‏
670 ‎‡a Author's T-cell Responses to HSV-1 in Persons Who Have Survived Childhood Herpes Simplex Encephalitis‏
670 ‎‡a Author's Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature‏
670 ‎‡a Author's The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies‏
670 ‎‡a Author's The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies‏
670 ‎‡a Author's The clinical spectrum of patients with deficiency of Signal Transducer and Activator of Transcription-1.‏
670 ‎‡a Author's The differential regulation of human ACT1 isoforms by Hsp90 in IL-17 signaling‏
670 ‎‡a Author's The diversity of antigen-specific TCR repertoires reflects the relative complexity of epitopes recognized‏
670 ‎‡a Author's The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases‏
670 ‎‡a Author's The genetic structure of the Turkish population reveals high levels of variation and admixture‏
670 ‎‡a Author's The genetic theory of infectious diseases: a brief history and selected illustrations‏
670 ‎‡a Author's The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses‏
670 ‎‡a Author's The human gene connectome as a map of short cuts for morbid allele discovery‏
670 ‎‡a Author's The human gene damage index as a gene-level approach to prioritizing exome variants‏
670 ‎‡a Author's The human genetic determinism of life-threatening infectious diseases: genetic heterogeneity and physiological homogeneity?‏
670 ‎‡a Author's The human model: a genetic dissection of immunity to infection in natural conditions‏
670 ‎‡a Author's The IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation‏
670 ‎‡a Author's The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants‏
670 ‎‡a Author's The interaction of antigenic peptides with the H-2Kd MHC class I molecule‏
670 ‎‡a Author's The Journal of Clinical Immunology: an international journal for primary immunodeficiencies and related human immunologic diseases.‏
670 ‎‡a Author's The kinase activity of IL-1 receptor-associated kinase 4 is required for interleukin-1 receptor/toll-like receptor-induced TAK1-dependent NFkappaB activation‏
670 ‎‡a Author's The MHC class II-restricted T cell response of C57BL/6 mice to human C-reactive protein: homology to self and the selection of T cell epitopes and T cell receptors‏
670 ‎‡a Author's The mutation significance cutoff: gene-level thresholds for variant predictions‏
670 ‎‡a Author's The nature of human IL-6‏
670 ‎‡a Author's The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.‏
670 ‎‡a Author's The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes‏
670 ‎‡a Author's The protein tyrosine kinase p60c-Src is not implicated in the pathogenesis of the human autosomal recessive form of osteopetrosis: a study of 13 children.‏
670 ‎‡a Author's The proteome of Toll-like receptor 3-stimulated human immortalized fibroblasts: implications for susceptibility to herpes simplex virus encephalitis‏
670 ‎‡a Author's The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies‏
670 ‎‡a Author's The Role of Human IL-17 Immunity in Fungal Disease‏
670 ‎‡a Author's The role of IL-12, IL-23 and IFN-gamma in immunity to viruses‏
670 ‎‡a Author's The role of interleukin-12 in human infectious diseases: only a faint signature‏
670 ‎‡a Author's The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88‏
670 ‎‡a Author's Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome‏
670 ‎‡a Author's TLR-mediated inflammatory responses to Streptococcus pneumoniae are highly dependent on surface expression of bacterial lipoproteins‏
670 ‎‡a Author's TLR3 deficiency in herpes simplex encephalitis: high allelic heterogeneity and recurrence risk‏
670 ‎‡a Author's TLR3 deficiency in patients with herpes simplex encephalitis‏
670 ‎‡a Author's TLR3 immunity to infection in mice and humans‏
670 ‎‡a Author's TLR8-mediated NF-κB and JNK Activation Are TAK1-independent and MEKK3-dependent‏
670 ‎‡a Author's Transduction of Herpesvirus saimiri-Transformed T Cells with Exogenous Genes of Interest.‏
670 ‎‡a Author's Transient Decrease of Circulating and Tissular Dendritic Cells in Patients With Mycobacterial Disease and With Partial Dominant IFNγR1 Deficiency‏
670 ‎‡a Author's Treatment of disseminated mycobacterial infection with high-dose IFN-γ in a patient with IL-12Rβ1 deficiency‏
670 ‎‡a Author's Treatment of the Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome (IPEX) by Allogeneic Bone Marrow Transplantation‏
670 ‎‡a Author's Tuberculin skin test negativity is under tight genetic control of chromosomal region 11p14-15 in settings with different tuberculosis endemicities‏
670 ‎‡a Author's Tuberculosis: a new look at an old disease‏
670 ‎‡a Author's Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant‏
670 ‎‡a Author's Tuberculosis in children and adults: two distinct genetic diseases‏
670 ‎‡a Author's Two loci control tuberculin skin test reactivity in an area hyperendemic for tuberculosis‏
670 ‎‡a Author's Type I interferon autoantibodies are associated with systemic immune alterations in patients with COVID-19‏
670 ‎‡a Author's Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets.‏
670 ‎‡a Author's Utility of the QuantiFERON®-TB Gold In-Tube assay for the diagnosis of tuberculosis in Moroccan children‏
670 ‎‡a Author's Value of open lung biopsy in immunocompromised children‏
670 ‎‡a Author's Variable outcome of experimental interferon-? therapy of disseminated Bacillus Calmette-Guerin infection in two unrelated interleukin-12R?1-deficient Slovakian children‏
670 ‎‡a Author's Variant of X-Linked Chronic Granulomatous Disease Revealed by a Severe Burkholderia cepacia Invasive Infection in an Infant‏
670 ‎‡a Author's Varicella-zoster virus CNS vasculitis and RNA polymerase III gene mutation in identical twins‏
670 ‎‡a Author's Very late-onset group B Streptococcus meningitis, sepsis, and systemic shigellosis due to interleukin-1 receptor-associated kinase-4 deficiency.‏
670 ‎‡a Author's Visceral leishmaniasis in two patients with IL-12p40 and IL-12Rβ1 deficiencies‏
670 ‎‡a Author's Whole-exome-sequencing-based discovery of human FADD deficiency‏
670 ‎‡a Author's Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma‏
670 ‎‡a Author's Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage‏
670 ‎‡a Author's Whole-Genome Sequencing Identifies STAT4 as a Putative Susceptibility Gene in Classic Kaposi Sarcoma‏
670 ‎‡a Author's Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants‏
670 ‎‡a Author's WITHDRAWN: Genetic infectious susceptibility and TLR defects in human‏
670 ‎‡a Author's X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling‏
670 ‎‡a Author's X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production‏
670 ‎‡a Author's Yellow fever vaccine: worthy friend or stealthy foe?‏
670 ‎‡a Author's ZNF341 controls STAT3 expression and thereby immunocompetence‏
670 ‎‡a Author's ভূমিকা‏
670 ‎‡a Author's সম্পাদকীয়‏
670 ‎‡a wikidata authority control‏ ‎‡u https://viaf.org/processed/DNB|144021471‏
670 ‎‡a wikidata authority control‏ ‎‡u https://viaf.org/processed/ISNI|0000000113900321‏
670 ‎‡a wikidata authority control‏ ‎‡u https://viaf.org/viaf/8717147270669035700003‏
670 ‎‡a wikidata authority control‏ ‎‡u https://viaf.org/processed/LC|no2011014700‏
670 ‎‡a wikidata authority control‏ ‎‡u https://viaf.org/processed/SUDOC|073388726‏
670 ‎‡a wikidata site links‏ ‎‡u https://fr.wikipedia.org/wiki/Jean-Laurent_Casanova‏
670 ‎‡a wikidata site links‏ ‎‡u https://de.wikipedia.org/wiki/Jean-Laurent_Casanova‏
909 ‎‡a (scopus) 7201863327‏ ‎‡9 1‏
909 ‎‡a (orcid) 0000000277824169‏ ‎‡9 1‏
912 ‎‡a সমপদকয‏ ‎‡A সম্পাদকীয়‏ ‎‡9 1‏
912 ‎‡a ভমক‏ ‎‡A ভূমিকা‏ ‎‡9 1‏
912 ‎‡a riskofcovid19deathismuchgreaterandagedependentwithtype1ifnautoantibodies‏ ‎‡A The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies‏ ‎‡9 1‏
912 ‎‡a immunopathologicallandscapeofhumanpretcrαdeficiencyfromraretocommonvariants‏ ‎‡A The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants‏ ‎‡9 1‏
912 ‎‡a revisitinghumanil12rβ1deficiencyasurveyof141patientsfrom30countries‏ ‎‡A Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries‏ ‎‡9 1‏
919 ‎‡a primaryimmunodeficiencydiseasesanupdateontheclassificationfromtheinternationalunionofimmunologicalsocietiesexpertcommitteeforprimaryimmunodeficiency‏ ‎‡A Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.‏ ‎‡9 2‏
919 ‎‡a znf341controlsstat3expressionandtherebyimmunocompetence‏ ‎‡A ZNF341 controls STAT3 expression and thereby immunocompetence‏ ‎‡9 1‏
919 ‎‡a yellowfevervaccineworthyfriendorstealthyfoe‏ ‎‡A Yellow fever vaccine: worthy friend or stealthy foe?‏ ‎‡9 1‏
919 ‎‡a 10linkedsusceptibilitytomycobacteriaiscausedbymutationsinnemoimpairingcd40dependentil12production‏ ‎‡A X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production‏ ‎‡9 1‏
919 ‎‡a 10linkedanhidroticectodermaldysplasiawithimmunodeficiencyiscausedbyimpairednfkappabsignaling‏ ‎‡A X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling‏ ‎‡9 1‏
919 ‎‡a withdrawngeneticinfectioussusceptibilityandtlrdefectsinhuman‏ ‎‡A WITHDRAWN: Genetic infectious susceptibility and TLR defects in human‏ ‎‡9 1‏
919 ‎‡a wholegenomesequencingismorepowerfulthanwholeexomesequencingfordetectingexomevariants‏ ‎‡A Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants‏ ‎‡9 1‏
919 ‎‡a wholegenomesequencingidentifiesstat4asaputativesusceptibilitygeneinclassickaposisarcoma‏ ‎‡A Whole-Genome Sequencing Identifies STAT4 as a Putative Susceptibility Gene in Classic Kaposi Sarcoma‏ ‎‡9 1‏
919 ‎‡a wholeexomesequencingtoanalyzepopulationstructureparentalinbreedingandfamiliallinkage‏ ‎‡A Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage‏ ‎‡9 1‏
919 ‎‡a wholeexomesequencingbaseddiscoveryofstim1deficiencyinachildwithfatalclassickaposisarcoma‏ ‎‡A Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma‏ ‎‡9 1‏
919 ‎‡a wholeexomesequencingbaseddiscoveryofhumanfadddeficiency‏ ‎‡A Whole-exome-sequencing-based discovery of human FADD deficiency‏ ‎‡9 1‏
919 ‎‡a visceralleishmaniasisin2patientswithil12p40andil12rβ1deficiencies‏ ‎‡A Visceral leishmaniasis in two patients with IL-12p40 and IL-12Rβ1 deficiencies‏ ‎‡9 1‏
919 ‎‡a verylateonsetgroupbstreptococcusmeningitissepsisandsystemicshigellosisduetointerleukin1receptorassociatedkinase4deficiency‏ ‎‡A Very late-onset group B Streptococcus meningitis, sepsis, and systemic shigellosis due to interleukin-1 receptor-associated kinase-4 deficiency.‏ ‎‡9 1‏
919 ‎‡a varicellazosterviruscnsvasculitisandrnapolymerase3genemutationinidenticaltwins‏ ‎‡A Varicella-zoster virus CNS vasculitis and RNA polymerase III gene mutation in identical twins‏ ‎‡9 1‏
919 ‎‡a variantof10linkedchronicgranulomatousdiseaserevealedbyasevereburkholderiacepaciainvasiveinfectioninaninfant‏ ‎‡A Variant of X-Linked Chronic Granulomatous Disease Revealed by a Severe Burkholderia cepacia Invasive Infection in an Infant‏ ‎‡9 1‏
919 ‎‡a variableoutcomeofexperimentalinterferontherapyofdisseminatedbacilluscalmetteguerininfectionin2unrelatedinterleukin12r1deficientslovakianchildren‏ ‎‡A Variable outcome of experimental interferon-? therapy of disseminated Bacillus Calmette-Guerin infection in two unrelated interleukin-12R?1-deficient Slovakian children‏ ‎‡9 1‏
919 ‎‡a valueofopenlungbiopsyinimmunocompromisedchildren‏ ‎‡A Value of open lung biopsy in immunocompromised children‏ ‎‡9 1‏
919 ‎‡a utilityofthequantiferontbgoldintubeassayforthediagnosisoftuberculosisinmoroccanchildren‏ ‎‡A Utility of the QuantiFERON®-TB Gold In-Tube assay for the diagnosis of tuberculosis in Moroccan children‏ ‎‡9 1‏
919 ‎‡a uniqueandsharedsignalingpathwayscooperatetoregulatethedifferentiationofhumancd4+tcellsintodistincteffectorsubsets‏ ‎‡A Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets.‏ ‎‡9 1‏
919 ‎‡a type1interferonautoantibodiesareassociatedwithsystemicimmunealterationsinpatientswithcovid19‏ ‎‡A Type I interferon autoantibodies are associated with systemic immune alterations in patients with COVID-19‏ ‎‡9 1‏
919 ‎‡a 2locicontroltuberculinskintestreactivityinanareahyperendemicfortuberculosis‏ ‎‡A Two loci control tuberculin skin test reactivity in an area hyperendemic for tuberculosis‏ ‎‡9 1‏
919 ‎‡a tuberculosisinchildrenandadults2distinctgeneticdiseases‏ ‎‡A Tuberculosis in children and adults: two distinct genetic diseases‏ ‎‡9 1‏
919 ‎‡a tuberculosisandimpairedil23dependentifnγimmunityinhumanshomozygousforacommonmissensevariant‏ ‎‡A Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant‏ ‎‡9 1‏
919 ‎‡a tuberculosisanewlookatanolddisease‏ ‎‡A Tuberculosis: a new look at an old disease‏ ‎‡9 1‏
919 ‎‡a tuberculinskintestnegativityisundertightgeneticcontrolofchromosomalregion11p1415insettingswithdifferenttuberculosisendemicities‏ ‎‡A Tuberculin skin test negativity is under tight genetic control of chromosomal region 11p14-15 in settings with different tuberculosis endemicities‏ ‎‡9 1‏
919 ‎‡a treatmentoftheimmunedysregulationpolyendocrinopathyenteropathy10linkedsyndromeipexbyallogeneicbonemarrowtransplantation‏ ‎‡A Treatment of the Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome (IPEX) by Allogeneic Bone Marrow Transplantation‏ ‎‡9 1‏
919 ‎‡a treatmentofdisseminatedmycobacterialinfectionwithhighdoseifnγinapatientwithil12rβ1deficiency‏ ‎‡A Treatment of disseminated mycobacterial infection with high-dose IFN-γ in a patient with IL-12Rβ1 deficiency‏ ‎‡9 1‏
919 ‎‡a transientdecreaseofcirculatingandtissulardendriticcellsinpatientswithmycobacterialdiseaseandwithpartialdominantifnγr1deficiency‏ ‎‡A Transient Decrease of Circulating and Tissular Dendritic Cells in Patients With Mycobacterial Disease and With Partial Dominant IFNγR1 Deficiency‏ ‎‡9 1‏
919 ‎‡a transductionofherpesvirussaimiritransformedtcellswithexogenousgenesofinterest‏ ‎‡A Transduction of Herpesvirus saimiri-Transformed T Cells with Exogenous Genes of Interest.‏ ‎‡9 1‏
919 ‎‡a tlr8mediatednfκbandjnkactivationaretak1independentandmekk3dependent‏ ‎‡A TLR8-mediated NF-κB and JNK Activation Are TAK1-independent and MEKK3-dependent‏ ‎‡9 1‏
919 ‎‡a tlr3immunitytoinfectioninmiceandhumans‏ ‎‡A TLR3 immunity to infection in mice and humans‏ ‎‡9 1‏
919 ‎‡a tlr3deficiencyinpatientswithherpessimplexencephalitis‏ ‎‡A TLR3 deficiency in patients with herpes simplex encephalitis‏ ‎‡9 1‏
919 ‎‡a tlr3deficiencyinherpessimplexencephalitishighallelicheterogeneityandrecurrencerisk‏ ‎‡A TLR3 deficiency in herpes simplex encephalitis: high allelic heterogeneity and recurrence risk‏ ‎‡9 1‏
919 ‎‡a tlrmediatedinflammatoryresponsestostreptococcuspneumoniaearehighlydependentonsurfaceexpressionofbacteriallipoproteins‏ ‎‡A TLR-mediated inflammatory responses to Streptococcus pneumoniae are highly dependent on surface expression of bacterial lipoproteins‏ ‎‡9 1‏
919 ‎‡a 3copiesof4interferonreceptorgenesunderlieamildtype1interferonopathyindownsyndrome‏ ‎‡A Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome‏ ‎‡9 1‏
919 ‎‡a transmembraneactivatortacitriggersimmunoglobulinclassswitchingbyactivatingbcellsthroughtheadaptormyd88‏ ‎‡A The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88‏ ‎‡9 1‏
919 ‎‡a roleofinterleukin12inhumaninfectiousdiseasesonlyafaintsignature‏ ‎‡A The role of interleukin-12 in human infectious diseases: only a faint signature‏ ‎‡9 1‏
919 ‎‡a roleofil12il23andifngammainimmunitytoviruses‏ ‎‡A The role of IL-12, IL-23 and IFN-gamma in immunity to viruses‏ ‎‡9 1‏
919 ‎‡a roleofhumanil17immunityinfungaldisease‏ ‎‡A The Role of Human IL-17 Immunity in Fungal Disease‏ ‎‡9 1‏
919 ‎‡a proteomeoftolllikereceptor3stimulatedhumanimmortalizedfibroblastsimplicationsforsusceptibilitytoherpessimplexvirusencephalitis‏ ‎‡A The proteome of Toll-like receptor 3-stimulated human immortalized fibroblasts: implications for susceptibility to herpes simplex virus encephalitis‏ ‎‡9 1‏
919 ‎‡a proteintyrosinekinasep60csrcisnotimplicatedinthepathogenesisofthehumanautosomalrecessiveformofosteopetrosisastudyof13children‏ ‎‡A The protein tyrosine kinase p60c-Src is not implicated in the pathogenesis of the human autosomal recessive form of osteopetrosis: a study of 13 children.‏ ‎‡9 1‏
919 ‎‡a nfkappabsignallingpathwayinhumandiseasesfromincontinentiapigmentitoectodermaldysplasiasandimmunedeficiencysyndromes‏ ‎‡A The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes‏ ‎‡9 1‏
919 ‎‡a nemomutationcreatingthemostupstreamprematurestopcodonishypomorphicbecauseofareinitiationoftranslation‏ ‎‡A The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.‏ ‎‡9 1‏
919 ‎‡a natureofhumanil6‏ ‎‡A The nature of human IL-6‏ ‎‡9 1‏
919 ‎‡a mutationsignificancecutoffgenelevelthresholdsforvariantpredictions‏ ‎‡A The mutation significance cutoff: gene-level thresholds for variant predictions‏ ‎‡9 1‏
919 ‎‡a mhcclass2restrictedtcellresponseofc57bl6micetohuman100reactiveproteinhomologytoselfandtheselectionoftcellepitopesandtcellreceptors‏ ‎‡A The MHC class II-restricted T cell response of C57BL/6 mice to human C-reactive protein: homology to self and the selection of T cell epitopes and T cell receptors‏ ‎‡9 1‏
919 ‎‡a kinaseactivityofil1receptorassociatedkinase4isrequiredforinterleukin1receptortolllikereceptorinducedtak1dependentnfkappabactivation‏ ‎‡A The kinase activity of IL-1 receptor-associated kinase 4 is required for interleukin-1 receptor/toll-like receptor-induced TAK1-dependent NFkappaB activation‏ ‎‡9 1‏
919 ‎‡a journalofclinicalimmunologyaninternationaljournalforprimaryimmunodeficienciesandrelatedhumanimmunologicdiseases‏ ‎‡A The Journal of Clinical Immunology: an international journal for primary immunodeficiencies and related human immunologic diseases.‏ ‎‡9 1‏
919 ‎‡a interactionofantigenicpeptideswiththeh2kdmhcclass1molecule‏ ‎‡A The interaction of antigenic peptides with the H-2Kd MHC class I molecule‏ ‎‡9 1‏
919 ‎‡a il1rnmutationcreatingthemostupstreamprematurestopcodonishypomorphicbecauseofareinitiationoftranslation‏ ‎‡A The IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation‏ ‎‡9 1‏
919 ‎‡a humanmodelageneticdissectionofimmunitytoinfectioninnaturalconditions‏ ‎‡A The human model: a genetic dissection of immunity to infection in natural conditions‏ ‎‡9 1‏
919 ‎‡a humangeneticdeterminismoflifethreateninginfectiousdiseasesgeneticheterogeneityandphysiologicalhomogeneity‏ ‎‡A The human genetic determinism of life-threatening infectious diseases: genetic heterogeneity and physiological homogeneity?‏ ‎‡9 1‏
919 ‎‡a humangenedamageindexasagenelevelapproachtoprioritizingexomevariants‏ ‎‡A The human gene damage index as a gene-level approach to prioritizing exome variants‏ ‎‡9 1‏
919 ‎‡a humangeneconnectomeasamapofshortcutsformorbidallelediscovery‏ ‎‡A The human gene connectome as a map of short cuts for morbid allele discovery‏ ‎‡9 1‏
919 ‎‡a humancib1ever1ever2complexgovernskeratinocyteintrinsicimmunitytoβpapillomaviruses‏ ‎‡A The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses‏ ‎‡9 1‏
919 ‎‡a genetictheoryofinfectiousdiseasesabriefhistoryandselectedillustrations‏ ‎‡A The genetic theory of infectious diseases: a brief history and selected illustrations‏ ‎‡9 1‏
919 ‎‡a geneticstructureoftheturkishpopulationrevealshighlevelsofvariationandadmixture‏ ‎‡A The genetic structure of the Turkish population reveals high levels of variation and admixture‏ ‎‡9 1‏
919 ‎‡a geneticheterogeneityofmendeliansusceptibilitytomycobacterialdiseases‏ ‎‡A The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases‏ ‎‡9 1‏
919 ‎‡a diversityofantigenspecifictcrrepertoiresreflectstherelativecomplexityofepitopesrecognized‏ ‎‡A The diversity of antigen-specific TCR repertoires reflects the relative complexity of epitopes recognized‏ ‎‡9 1‏
919 ‎‡a differentialregulationofhumanact1isoformsbyhsp90inil17signaling‏ ‎‡A The differential regulation of human ACT1 isoforms by Hsp90 in IL-17 signaling‏ ‎‡9 1‏
919 ‎‡a clinicalspectrumofpatientswithdeficiencyofsignaltransducerandactivatoroftranscription1‏ ‎‡A The clinical spectrum of patients with deficiency of Signal Transducer and Activator of Transcription-1.‏ ‎‡9 1‏
919 ‎‡a 2017iuisphenotypicclassificationforprimaryimmunodeficiencies‏ ‎‡A The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies‏ ‎‡9 1‏
919 ‎‡a 2015iuisphenotypicclassificationforprimaryimmunodeficiencies‏ ‎‡A The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies‏ ‎‡9 1‏
919 ‎‡a tartrateresistantacidphosphatasedeficiencycausesabonedysplasiawithautoimmunityandatype1interferonexpressionsignature‏ ‎‡A Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature‏ ‎‡9 1‏
919 ‎‡a tcellresponsestohsv1inpersonswhohavesurvivedchildhoodherpessimplexencephalitis‏ ‎‡A T-cell Responses to HSV-1 in Persons Who Have Survived Childhood Herpes Simplex Encephalitis‏ ‎‡9 1‏
919 ‎‡a tcelldependentactivationofdendriticcellsrequiresil12andifngammasignalingintcells‏ ‎‡A T cell-dependent activation of dendritic cells requires IL-12 and IFN-gamma signaling in T cells‏ ‎‡9 1‏
919 ‎‡a tcelldefectsinpatientswithgermlinemutationsaccountforcombinedimmunodeficiency‏ ‎‡A T-cell defects in patients with germline mutations account for combined immunodeficiency‏ ‎‡9 1‏
919 ‎‡a systemictype1ifninflammationinhumanisg15deficiencyleadstonecrotizingskinlesions‏ ‎‡A Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions‏ ‎‡9 1‏
919 ‎‡a systemichumanilcprecursorsprovideasubstratefortissueilcdifferentiation‏ ‎‡A Systemic Human ILC Precursors Provide a Substrate for Tissue ILC Differentiation.‏ ‎‡9 1‏
919 ‎‡a susceptibilitegenetiqueetinfectionchez50enfant‏ ‎‡A Susceptibilité génétique et infection chez l’enfant‏ ‎‡9 1‏
919 ‎‡a successfulhematopoieticstemcelltransplantationinachildwithactivedisseminatedmycobacteriumfortuituminfectionandinterferonγreceptor1deficiency‏ ‎‡A Successful hematopoietic stem cell transplantation in a child with active disseminated Mycobacterium fortuitum infection and interferon-γ receptor 1 deficiency‏ ‎‡9 1‏
919 ‎‡a successfulhematopoieticstemcelltransplantationfromanunrelateddonorinachildwithinterferongammareceptordeficiency‏ ‎‡A Successful hematopoietic stem cell transplantation from an unrelated donor in a child with interferon gamma receptor deficiency‏ ‎‡9 1‏
919 ‎‡a stingassociatedvasculopathywithonsetininfancyanewinterferonopathy‏ ‎‡A STING-Associated Vasculopathy with Onset in Infancy — A New Interferonopathy‏ ‎‡9 1‏
919 ‎‡a stemcelltransplantationforimmunodeficiency‏ ‎‡A Stem cell transplantation for immunodeficiency‏ ‎‡9 1‏
919 ‎‡a stat3isacriticalcellintrinsicregulatorofhumanunconventionaltcellnumbersandfunction‏ ‎‡A STAT3 is a critical cell-intrinsic regulator of human unconventional T cell numbers and function‏ ‎‡9 1‏
919 ‎‡a stat1gainoffunctionanddominantnegativestat3mutationsimpairil17andil22immunityassociatedwithcmc‏ ‎‡A STAT1 Gain-of-Function and Dominant Negative STAT3 Mutations Impair IL-17 and IL-22 Immunity Associated with CMC.‏ ‎‡9 1‏
919 ‎‡a staphylococcalpericarditisandliverandparatrachealabscessesaspresentationsin2newcasesofinterleukin1receptorassociatedkinase4deficiency‏ ‎‡A Staphylococcal Pericarditis, and Liver and Paratracheal Abscesses as Presentations in Two New Cases of Interleukin-1 Receptor Associated Kinase 4 Deficiency‏ ‎‡9 1‏
919 ‎‡a singlecellpcranalysisoftcrrepertoiresselectedbyantigeninvivoahighmagnitudecd8responseiscomprisedofveryfewclones‏ ‎‡A Single-cell PCR analysis of TCR repertoires selected by antigen in vivo: a high magnitude CD8 response is comprised of very few clones.‏ ‎‡9 1‏
919 ‎‡a simultaneouspresentationof2rarehereditaryimmunodeficienciesil12receptorbeta1deficiencyandataxiatelangiectasia‏ ‎‡A Simultaneous presentation of 2 rare hereditary immunodeficiencies: IL-12 receptor beta1 deficiency and ataxia-telangiectasia.‏ ‎‡9 1‏
919 ‎‡a simplediagnosisofstat1gainoffunctionallelesinpatientswithchronicmucocutaneouscandidiasis‏ ‎‡A Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis‏ ‎‡9 1‏
919 ‎‡a signaltransducerandactivatoroftranscription3stat3mutationsunderlyingautosomaldominanthyperigesyndromeimpairhumancd8+tcellmemoryformationandfunction‏ ‎‡A Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8(+) T-cell memory formation and function.‏ ‎‡9 1‏
919 ‎‡a shigellasonneimeningitisduetointerleukin1receptorassociatedkinase4deficiency1associationwithaprimaryimmunedeficiency‏ ‎‡A Shigella sonnei Meningitis Due to Interleukin-1 Receptor--Associated Kinase--4 Deficiency: First Association with a Primary Immune Deficiency‏ ‎‡9 1‏
919 ‎‡a severemycobacterialdiseasesinapatientwithgofiκbαmutationwithouteda‏ ‎‡A Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA‏ ‎‡9 1‏
919 ‎‡a severemycobacterialandsalmonellainfectionsininterleukin12receptordeficientpatients‏ ‎‡A Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients‏ ‎‡9 1‏
919 ‎‡a severeinfluenzapneumonitisinchildrenwithinheritedtlr3deficiency‏ ‎‡A Severe influenza pneumonitis in children with inherited TLR3 deficiency‏ ‎‡9 1‏
919 ‎‡a severeinfectiousdiseasesofchildhoodasmonogenicinbornerrorsofimmunity‏ ‎‡A Severe infectious diseases of childhood as monogenic inborn errors of immunity‏ ‎‡9 1‏
919 ‎‡a severeenteropathyandhypogammaglobulinemiacomplicatingrefractorymycobacteriumtuberculosiscomplexdisseminateddiseaseinachildwithil12rβ1deficiency‏ ‎‡A Severe Enteropathy and Hypogammaglobulinemia Complicating Refractory Mycobacterium tuberculosis Complex Disseminated Disease in a Child with IL-12Rβ1 Deficiency.‏ ‎‡9 1‏
919 ‎‡a severecutaneouspapillomavirusdiseaseafterhaemopoieticstemcelltransplantationinpatientswithseverecombinedimmunedeficiencycausedbycommongammaccytokinereceptorsubunitorjak3deficiency‏ ‎‡A Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common gammac cytokine receptor subunit or JAK-3 deficiency‏ ‎‡9 1‏
919 ‎‡a severecovid19intheyoungandhealthymonogenicinbornerrorsofimmunity‏ ‎‡A Severe COVID-19 in the young and healthy: monogenic inborn errors of immunity?‏ ‎‡9 1‏
919 ‎‡a severecombinedimmunodeficiencyandmicrocephalyinsiblingswithhypomorphicmutationsindnaligase4‏ ‎‡A Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV.‏ ‎‡9 1‏
919 ‎‡a severebcgosismisdiagnosedasmultidrugresistanttuberculosisinanil12rβ1deficientperuviangirl‏ ‎‡A Severe BCG-osis Misdiagnosed as Multidrug-Resistant Tuberculosis in an IL-12Rβ1-Deficient Peruvian Girl‏ ‎‡9 1‏
919 ‎‡a severeaplasticanemiaofneonatalonsetasinglecenterretrospectivestudyof6children‏ ‎‡A Severe aplastic anemia of neonatal onset: a single-center retrospective study of six children‏ ‎‡9 1‏
919 ‎‡a seqtailorauserfriendlywebserverfortheextractionofdnaorproteinsequencesfromnextgenerationsequencingdata‏ ‎‡A SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data‏ ‎‡9 1‏
919 ‎‡a septicemiawithoutsepsisinheriteddisordersofnuclearfactorkappabmediatedinflammation‏ ‎‡A Septicemia without sepsis: inherited disorders of nuclear factor-kappa B-mediated inflammation‏ ‎‡9 1‏
919 ‎‡a selfreactivevh434expressingiggbcellsrecognizecommensalbacteria‏ ‎‡A Self-reactive VH4-34-expressing IgG B cells recognize commensal bacteria‏ ‎‡9 1‏
919 ‎‡a selectivepredispositiontobacterialinfectionsinirak4deficientchildrenirak4dependenttlrsareotherwiseredundantinprotectiveimmunity‏ ‎‡A Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity‏ ‎‡9 1‏
919 ‎‡a safetyofhematopoieticstemcelltransplantationfromhepatitisbcoreantibodiespositivedonorswithlowundetectableviremiainhbvnaivechildren‏ ‎‡A Safety of hematopoietic stem cell transplantation from hepatitis B core antibodies-positive donors with low/undetectable viremia in HBV-naïve children.‏ ‎‡9 1‏
919 ‎‡a ruxolitinibresponseinaninfantwithveryearlyonsetinflammatoryboweldiseaseandgainoffunctionstat1mutation‏ ‎‡A Ruxolitinib Response in an Infant with Very-Early-Onset Inflammatory Bowel Disease and Gain-of-Function STAT1 Mutation‏ ‎‡9 1‏
919 ‎‡a ribosomalproteinsahaploinsufficiencyinhumanswithisolatedcongenitalasplenia‏ ‎‡A Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia‏ ‎‡9 1‏
919 ‎‡a rhinoscleromaafrenchnationalretrospectivestudyofepidemiologicalandclinicalfeatures‏ ‎‡A Rhinoscleroma: a French national retrospective study of epidemiological and clinical features‏ ‎‡9 1‏
919 ‎‡a revisitinghumanprimaryimmunodeficiencies‏ ‎‡A Revisiting human primary immunodeficiencies‏ ‎‡9 1‏
919 ‎‡a revisitingcrohnsdiseaseasaprimaryimmunodeficiencyofmacrophages‏ ‎‡A Revisiting Crohn's disease as a primary immunodeficiency of macrophages‏ ‎‡9 1‏
919 ‎‡a retroviralmediatedgenetransferrestoresil12andil23signalingpathwaysintcellsfromil12receptorbeta1deficientpatients‏ ‎‡A Retroviral-mediated gene transfer restores IL-12 and IL-23 signaling pathways in T cells from IL-12 receptor beta1-deficient patients‏ ‎‡9 1‏
919 ‎‡a rescueofrecurrentdeepintronicmutationunderlyingcelltypedependentquantitativenemodeficiency‏ ‎‡A Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency‏ ‎‡9 1‏
919 ‎‡a requirementforbothil12andifngammasignalingpathwaysinoptimalifngammaproductionbyhumantcells‏ ‎‡A Requirement for both IL-12 and IFN-gamma signaling pathways in optimal IFN-gamma production by human T cells‏ ‎‡9 1‏
919 ‎‡a renalfailureassociatedwithapecedandterminal4qdeletionevidenceofautoimmunenephropathy‏ ‎‡A Renal failure associated with APECED and terminal 4q deletion: evidence of autoimmune nephropathy‏ ‎‡9 1‏
919 ‎‡a reducedexpressionoffoxp3andregulatorytcellfunctioninsevereformsofearlyonsetautoimmuneenteropathy‏ ‎‡A Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathy‏ ‎‡9 1‏
919 ‎‡a recurrentstaphylococcalcellulitisandsubcutaneousabscessesinachildwithautoantibodiesagainstil6‏ ‎‡A Recurrent staphylococcal cellulitis and subcutaneous abscesses in a child with autoantibodies against IL-6.‏ ‎‡9 1‏
919 ‎‡a recurrentsalmonellosisinachildwithcompleteil12rβ1deficiency‏ ‎‡A Recurrent Salmonellosis in a Child with Complete IL-12Rβ1 Deficiency‏ ‎‡9 1‏
919 ‎‡a recurrentsalmonellatyphiinfectionandautoimmunityinayoungboywithcompleteil12receptorβ1deficiency‏ ‎‡A Recurrent Salmonella typhi Infection and Autoimmunity in a Young Boy with Complete IL-12 Receptor β1 Deficiency‏ ‎‡9 1‏
919 ‎‡a recurrentrhinovirusinfectionsinachildwithinheritedmda5deficiency‏ ‎‡A Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.‏ ‎‡9 1‏
919 ‎‡a recurrentnontyphoidalsalmonellabacteremiainapatientwithinterleukin12p40deficiency‏ ‎‡A Recurrent non-typhoidal salmonella bacteremia in a patient with interleukin -12p40 deficiency.‏ ‎‡9 1‏
919 ‎‡a recurrentelevatedlivertransaminasesandacuteliverfailurein2siblingswithnovelbiallelicmutationsofnbas‏ ‎‡A Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS.‏ ‎‡9 1‏
919 ‎‡a recalcitrantwartsepidermodysplasiaverruciformisandthetreemansyndromephenotypicspectrumofcutaneoushumanpapillomavirusinfectionsattheintersectionofgeneticvariabilityofviralandhumangenomes‏ ‎‡A Recalcitrant Warts, Epidermodysplasia Verruciformis, and the Tree-Man Syndrome: Phenotypic Spectrum of Cutaneous Human Papillomavirus Infections at the Intersection of Genetic Variability of Viral and Human Genomes‏ ‎‡9 1‏
919 ‎‡a realtimemeasurementofantigenicpeptidebindingtoemptyandpreloadedsinglechainmajorhistocompatibilitycomplexclass1molecules‏ ‎‡A Real-time measurement of antigenic peptide binding to empty and preloaded single-chain major histocompatibility complex class I molecules‏ ‎‡9 1‏
919 ‎‡a pyogenicbacterialinfectionsinhumanswithmyd88deficiency‏ ‎‡A Pyogenic bacterial infections in humans with MyD88 deficiency‏ ‎‡9 1‏
919 ‎‡a pyogenicbacterialinfectionsinhumanswithirak4deficiency‏ ‎‡A Pyogenic bacterial infections in humans with IRAK-4 deficiency‏ ‎‡9 1‏
919 ‎‡a purulentpericarditisandcolonicinfiltratingtosalmonellaenteritidiscomplicatedbyacuteintussusceptioninacaseofil12rβ1deficiency‏ ‎‡A Purulent pericarditis and colonic infiltrating to Salmonella enteritidis complicated by acute intussusception in a case of IL-12Rβ1 deficiency‏ ‎‡9 1‏
919 ‎‡a purpurafulminansmeningococciquerencontremalheureusedepolymorphismesgenetiques‏ ‎‡A Purpura fulminans méningococcique: rencontre malheureuse de polymorphismes génétiques?‏ ‎‡9 1‏
919 ‎‡a pulmonarymanifestationsofchronicgranulomatousdisease‏ ‎‡A Pulmonary manifestations of chronic granulomatous disease‏ ‎‡9 1‏
919 ‎‡a publishercorrectionigf1risanentryreceptorforrespiratorysyncytialvirus‏ ‎‡A Publisher Correction: IGF1R is an entry receptor for respiratory syncytial virus‏ ‎‡9 1‏
919 ‎‡a proteomicsinimmunityandherpessimplexencephalitis‏ ‎‡A Proteomics in immunity and herpes simplex encephalitis‏ ‎‡9 1‏
919 ‎‡a propionibacteriumacneschestinfectionsinpatientswithchronicgranulomatousdiseasecasereports‏ ‎‡A Propionibacterium acnes Chest Infections in Patients with Chronic Granulomatous Disease: Case Reports‏ ‎‡9 1‏
919 ‎‡a primaryimmunodeficiencydiseasesworldwidemorecommonthangenerallythought‏ ‎‡A Primary immunodeficiency diseases worldwide: more common than generally thought‏ ‎‡9 1‏
919 ‎‡a primaryimmunodeficiencydiseasesthejproject‏ ‎‡A Primary immunodeficiency diseases: the J Project‏ ‎‡9 1‏
919 ‎‡a primaryimmunodeficiencydiseasesanupdatefromtheinternationalunionofimmunologicalsocietiesprimaryimmunodeficiencydiseasesclassificationcommitteemeetinginbudapest‏ ‎‡A Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005‏ ‎‡9 1‏
919 ‎‡a primaryimmunodeficiencydiseasesanupdatefromtheinternationalunionofimmunologicalsocietiesprimaryimmunodeficiencydiseasesclassificationcommittee‏ ‎‡A Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee‏ ‎‡9 1‏
919 ‎‡a primaryimmunodeficiencydiseasesanupdate‏ ‎‡A Primary immunodeficiency diseases: an update‏ ‎‡9 1‏
919 ‎‡a primaryimmunodeficienciesunderlyingfungalinfections‏ ‎‡A Primary immunodeficiencies underlying fungal infections‏ ‎‡9 1‏
919 ‎‡a primaryimmunodeficienciesofprotectiveimmunitytoprimaryinfections‏ ‎‡A Primary immunodeficiencies of protective immunity to primary infections‏ ‎‡9 1‏
919 ‎‡a primaryimmunodeficienciesmayrevealpotentialinfectiousdiseasesassociatedwithimmunetargetingmabtreatments‏ ‎‡A Primary immunodeficiencies may reveal potential infectious diseases associated with immune-targeting mAb treatments‏ ‎‡9 1‏
919 ‎‡a primaryimmunodeficienciesincreasingmarketshare‏ ‎‡A Primary immunodeficiencies: increasing market share‏ ‎‡9 1‏
919 ‎‡a primaryimmunodeficienciesassociatedwithpneumococcaldisease‏ ‎‡A Primary immunodeficiencies associated with pneumococcal disease‏ ‎‡9 1‏
919 ‎‡a primaryimmunodeficiencies‏ ‎‡A Primary immunodeficiencies: a rapidly evolving story‏ ‎‡9 1‏
919 ‎‡a primaryimmunodeficienciesafieldinitsinfancy‏ ‎‡A Primary immunodeficiencies: a field in its infancy‏ ‎‡9 1‏
919 ‎‡a primaryimmunodeficiencies2009update‏ ‎‡A Primary immunodeficiencies: 2009 update‏ ‎‡9 1‏
919 ‎‡a primaryimmunedeficienciespresentinginadults7yearsofexperiencefromiran‏ ‎‡A Primary Immune Deficiencies Presenting in Adults: Seven Years of Experience from Iran‏ ‎‡9 1‏
919 ‎‡a primarycytomegalovirusinfectionatypicalkawasakidiseaseandcoronaryaneurysmsin2infants‏ ‎‡A Primary Cytomegalovirus Infection, Atypical Kawasaki Disease, and Coronary Aneurysms in 2 Infants‏ ‎‡9 1‏
919 ‎‡a prevalenceandriskfactorsforlatenttuberculosisinfectionamonghealthcareworkersinmorocco‏ ‎‡A Prevalence and risk factors for latent tuberculosis infection among healthcare workers in Morocco‏ ‎‡9 1‏
919 ‎‡a predispositiongenetiqueetinfectionsdelenfant‏ ‎‡A Prédisposition génétique et infections de l'enfant‏ ‎‡9 1‏
919 ‎‡a predispositiongenetiquea50encephaliteherpetiquechez50enfant‏ ‎‡A Prédisposition génétique à l’encéphalite herpétique chez l’enfant‏ ‎‡9 1‏
919 ‎‡a pottsdiseaseinmoroccanchildrenclinicalfeaturesandinvestigationoftheinterleukin12interferonγpathway‏ ‎‡A Pott's disease in Moroccan children: clinical features and investigation of the interleukin-12/interferon-γ pathway‏ ‎‡9 1‏
919 ‎‡a posaconazoletreatmentofextensiveskinandnaildermatophytosisduetoautosomalrecessivedeficiencyofcard9‏ ‎‡A Posaconazole treatment of extensive skin and nail dermatophytosis due to autosomal recessive deficiency of CARD9.‏ ‎‡9 1‏
919 ‎‡a popvizawebserverforvisualizingminorallelefrequenciesanddamagepredictionscoresofhumangeneticvariations‏ ‎‡A PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations‏ ‎‡9 1‏
919 ‎‡a pinealgerminomainachildwithinterferonγreceptor1deficiencycasereportandliteraturereview‏ ‎‡A Pineal germinoma in a child with interferon-γ receptor 1 deficiency. case report and literature review‏ ‎‡9 1‏
919 ‎‡a phenotypiccomplementationofgeneticimmunodeficiencybychronicherpesvirusinfection‏ ‎‡A Phenotypic complementation of genetic immunodeficiency by chronic herpesvirus infection‏ ‎‡9 1‏
919 ‎‡a phagocytenicotinamideadeninedinucleotidephosphateoxidaseactivityinpatientswithinheritedifnγr1orifnγr2deficiency‏ ‎‡A Phagocyte nicotinamide adenine dinucleotide phosphate oxidase activity in patients with inherited IFN-γR1 or IFN-γR2 deficiency‏ ‎‡9 1‏
919 ‎‡a pax1isessentialfordevelopmentandfunctionofthehumanthymus‏ ‎‡A PAX1 is essential for development and function of the human thymus‏ ‎‡9 1‏
919 ‎‡a patientipscderivedmacrophagestostudyinbornerrorsoftheifnγresponsivepathway‏ ‎‡A Patient iPSC-Derived Macrophages to Study Inborn Errors of the IFN-γ Responsive Pathway‏ ‎‡9 1‏
919 ‎‡a pathologicalconsequencesofexcessofinterferoninvivo‏ ‎‡A [Pathological consequences of excess of interferon in vivo]‏ ‎‡9 1‏
919 ‎‡a pathogenesisofinfectionsinhivinfectedindividualsinsightsfromprimaryimmunodeficiencies‏ ‎‡A Pathogenesis of infections in HIV-infected individuals: insights from primary immunodeficiencies‏ ‎‡9 1‏
919 ‎‡a paternaluniparentalisodisomyofchromosome6causingacomplexsyndromeincludingcompleteifngammareceptor1deficiency‏ ‎‡A Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency‏ ‎‡9 1‏
919 ‎‡a pastpresentandfutureofthejournalofclinicalimmunologytheinternationaljournalofinbornerrorsofimmunity‏ ‎‡A Past, Present, and Future of The Journal of Clinical Immunology, the International Journal of Inborn Errors of Immunity‏ ‎‡9 1‏
919 ‎‡a partialtandblymphocyteimmunodeficiencyandpredispositiontolymphomainpatientswithhypomorphicmutationsinartemis‏ ‎‡A Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis‏ ‎‡9 1‏
919 ‎‡a partialrecessiveifnγr1deficiencygeneticimmunologicalandclinicalfeaturesof14patientsfrom11kindreds‏ ‎‡A Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds‏ ‎‡9 1‏
919 ‎‡a partialmcm4deficiencyinpatientswithgrowthretardationadrenalinsufficiencyandnaturalkillercelldeficiency‏ ‎‡A Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency‏ ‎‡9 1‏
919 ‎‡a partialifnγr2deficiencyisduetoproteinmisfoldingandcanberescuedbyinhibitorsofglycosylation‏ ‎‡A Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation‏ ‎‡9 1‏
919 ‎‡a parsingtheinterferontranscriptionalnetworkanditsdiseaseassociations‏ ‎‡A Parsing the Interferon Transcriptional Network and Its Disease Associations‏ ‎‡9 1‏
919 ‎‡a paracoccidioidomycosisassociatedwithaheterozygousstat4mutationandimpairedifnγimmunity‏ ‎‡A Paracoccidioidomycosis Associated With a Heterozygous STAT4 Mutation and Impaired IFN-γ Immunity‏ ‎‡9 1‏
919 ‎‡a paracoccidioidesbrasiliensisdisseminateddiseaseinapatientwithinheriteddeficiencyinthe1subunitoftheinterleukinil12il23receptor‏ ‎‡A Paracoccidioides brasiliensis Disseminated Disease in a Patient with Inherited Deficiency in the 1 Subunit of the Interleukin (IL)-12/IL-23 Receptor‏ ‎‡9 1‏
919 ‎‡a paracoccidioidesbrasiliensisdisseminateddiseaseinapatientwithinheriteddeficiencyinthe1subunitoftheinterleukin‏ ‎‡A Paracoccidioides brasiliensis Disseminated Disease in a Patient with Inherited Deficiency in the 1 Subunit of the Interleukin‏ ‎‡9 1‏
919 ‎‡a outbreakofkawasakidiseaseinchildrenduringcovid19pandemicaprospectiveobservationalstudyinparisfrance‏ ‎‡A Outbreak of Kawasaki disease in children during COVID-19 pandemic: a prospective observational study in Paris, France‏ ‎‡9 1‏
919 ‎‡a osteopetrosislymphedemaanhidroticectodermaldysplasiaandimmunodeficiencyinaboyandincontinentiapigmentiinhismother‏ ‎‡A Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother‏ ‎‡9 1‏
919 ‎‡a orfinfectioninapatientwithstat1gainoffunction‏ ‎‡A Orf Infection in a Patient with Stat1 Gain-of-Function‏ ‎‡9 1‏
919 ‎‡a optimalconditionsfordirectlysequencingdoublestrandedpcrproductswithsequenase‏ ‎‡A Optimal conditions for directly sequencing double-stranded PCR products with sequenase‏ ‎‡9 1‏
919 ‎‡a oesophagealsquamouscellcarcinomainayoungadultwithil12rbeta1deficiency‏ ‎‡A Oesophageal squamous cell carcinoma in a young adult with IL-12R beta 1 deficiency‏ ‎‡9 1‏
919 ‎‡a occurrenceofbcelllymphomasinpatientswithactivatedphosphoinositide3kinaseδsyndrome‏ ‎‡A Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase δ syndrome‏ ‎‡9 1‏
919 ‎‡a occurrenceofaorticaneurysmsin5casesofwiskottaldrichsyndrome‏ ‎‡A Occurrence of Aortic Aneurysms in 5 Cases of Wiskott-Aldrich Syndrome‏ ‎‡9 1‏
919 ‎‡a nuclearfactorkappabessentialmodulatordeficientchildwithimmunodeficiencyyetwithoutanhidroticectodermaldysplasia‏ ‎‡A Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia‏ ‎‡9 1‏
919 ‎‡a novelstat1allelesinotherwisehealthypatientswithmycobacterialdisease‏ ‎‡A Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease‏ ‎‡9 1‏
919 ‎‡a novelprimaryimmunodeficiencycandidategenespredictedbythehumangeneconnectome‏ ‎‡A Novel primary immunodeficiency candidate genes predicted by the human gene connectome‏ ‎‡9 1‏
919 ‎‡a novelprimaryimmunodeficienciesrevealedbytheinvestigationofpaediatricinfectiousdiseases‏ ‎‡A Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases‏ ‎‡9 1‏
919 ‎‡a novelprimaryimmunodeficienciesrelevanttointernalmedicinenovelphenotypes‏ ‎‡A Novel primary immunodeficiencies relevant to internal medicine: novel phenotypes‏ ‎‡9 1‏
919 ‎‡a novelprimaryimmunodeficiencies‏ ‎‡A Novel primary immunodeficiencies‏ ‎‡9 1‏
919 ‎‡a novelhumanimmunodeficienciesrevealtheessentialroleoftype1cytokinesinimmunitytointracellularbacteria‏ ‎‡A Novel human immunodeficiencies reveal the essential role of type-I cytokines in immunity to intracellular bacteria‏ ‎‡9 1‏
919 ‎‡a nonpathogeniccommonvariantsofifngr1andifngr2inassociationwithtotalserumigelevels‏ ‎‡A Nonpathogenic Common Variants of IFNGR1 and IFNGR2 in Association with Total Serum IgE Levels‏ ‎‡9 1‏
919 ‎‡a newmechanismof10linkedanhidroticectodermaldysplasiawithimmunodeficiencyimpairmentofubiquitinbindingdespitenormalfoldingofnemoprotein‏ ‎‡A New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein‏ ‎‡9 1‏
919 ‎‡a newfrontiersinimmunologyworkshopontheroadaheadfuturedirectionsinfundamentalandclinicalimmunology‏ ‎‡A New frontiers in immunology. Workshop on the road ahead: future directions in fundamental and clinical immunology‏ ‎‡9 1‏
919 ‎‡a newandrecurrentgainoffunctionstat1mutationsinpatientswithchronicmucocutaneouscandidiasisfromeasternandcentraleurope‏ ‎‡A New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.‏ ‎‡9 1‏
919 ‎‡a nemomutationsin2unrelatedboyswithsevereinfectionsandconicalteeth‏ ‎‡A NEMO Mutations in 2 Unrelated Boys With Severe Infections and Conical Teeth‏ ‎‡9 1‏
919 ‎‡a nemoisakeycomponentofnfκbandirf3dependenttlr3mediatedimmunitytoherpessimplexvirus‏ ‎‡A NEMO is a key component of NF-κB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus.‏ ‎‡9 1‏
919 ‎‡a naiveandmemoryhumanbcellshavedistinctrequirementsforstat3activationtodifferentiateintoantibodysecretingplasmacells‏ ‎‡A Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells.‏ ‎‡9 1‏
919 ‎‡a mycobacteriumszulgaichronicmultifocalosteomyelitisinanadolescentwithinheritedstat1deficiency‏ ‎‡A Mycobacterium szulgai Chronic Multifocal Osteomyelitis in an Adolescent with Inherited STAT1 Deficiency‏ ‎‡9 1‏
919 ‎‡a mycobacteriumsimiaeinfectionin2unrelatedpatientswithdifferentformsofinheritedifnγr2deficiency‏ ‎‡A Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency‏ ‎‡9 1‏
919 ‎‡a mycobacteriumfortuitumchelonaecomplexinfectioninachildwithcompleteinterleukin12receptorbeta1deficiency‏ ‎‡A MYCOBACTERIUM FORTUITUM-CHELONAE COMPLEX INFECTION IN A CHILD WITH COMPLETE INTERLEUKIN-12 RECEPTOR BETA 1 DEFICIENCY‏ ‎‡9 1‏
919 ‎‡a mycobacterialdiseaseinpatientswithchronicgranulomatousdiseasearetrospectiveanalysisof71cases‏ ‎‡A Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases.‏ ‎‡9 1‏
919 ‎‡a mycobacterialdiseaseinachildwithsurfaceexpressednonfunctionalinterleukin12rbeta1chains‏ ‎‡A Mycobacterial disease in a child with surface-expressed non-functional interleukin-12Rbeta1 chains.‏ ‎‡9 1‏
919 ‎‡a mycobacterialdiseaseandimpairedifnγimmunityinhumanswithinheritedisg15deficiency‏ ‎‡A Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency‏ ‎‡9 1‏
919 ‎‡a mutualalterationofnod2associatedblausyndromeandifnγr1deficiency‏ ‎‡A Mutual alteration of NOD2-associated Blau syndrome and IFNγR1 deficiency‏ ‎‡9 1‏
919 ‎‡a mutationsinthetgfβbindingproteinlikedomain5offbn1areresponsibleforacromicricandgeleophysicdysplasias‏ ‎‡A Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias‏ ‎‡9 1‏
919 ‎‡a mutationsinstat3andil12rb1impairthedevelopmentofhumanil17producingtcells‏ ‎‡A Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells‏ ‎‡9 1‏
919 ‎‡a mutationsatasinglecodoninmadhomology2domainofsmad4causemyhresyndrome‏ ‎‡A Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome‏ ‎‡9 1‏
919 ‎‡a mutationinil36rnimpairstheprocessingandregulatoryfunctionoftheinterleukin36receptorantagonistandisassociatedwithditrasyndrome‏ ‎‡A Mutation in IL36RN impairs the processing and regulatory function of the interleukin-36 receptor antagonist and is associated with DITRA syndrome.‏ ‎‡9 1‏
919 ‎‡a multiplecutaneoussquamouscellcarcinomasinapatientwithinterferongammareceptor2ifngammar2deficiency‏ ‎‡A Multiple cutaneous squamous cell carcinomas in a patient with interferon gamma receptor 2 (IFN gamma R2) deficiency.‏ ‎‡9 1‏
919 ‎‡a multiplecutaneoussquamouscellcarcinomasinapatientwithinterferongammareceptor2‏ ‎‡A Multiple cutaneous squamous cell carcinomas in a patient with interferon gamma receptor 2‏ ‎‡9 1‏
919 ‎‡a multifocaltuberculousosteomyelitispossibleinheritedinterferongammaaxisdefect‏ ‎‡A Multifocal Tuberculous osteomyelitis: possible inherited interferon gamma axis defect‏ ‎‡9 1‏
919 ‎‡a multicentriccastlemandiseaseinanhhv8infectedchildborntoconsanguineousparentswithsystematicreview‏ ‎‡A Multicentric Castleman disease in an HHV8-infected child born to consanguineous parents with systematic review‏ ‎‡9 1‏
919 ‎‡a multibatchcytometrydataintegrationforoptimalimmunophenotyping‏ ‎‡A Multibatch Cytometry Data Integration for Optimal Immunophenotyping‏ ‎‡9 1‏
919 ‎‡a mucocutaneouscandidiasisandautoimmunityagainstcytokinesinapecedandthymomapatientsclinicalandpathogeneticimplications‏ ‎‡A Mucocutaneous candidiasis and autoimmunity against cytokines in APECED and thymoma patients: clinical and pathogenetic implications‏ ‎‡9 1‏
919 ‎‡a mostresiduesontheflooroftheantigenbindingsiteoftheclass1mhcmoleculeh2kdinfluencepeptidepresentation‏ ‎‡A Most residues on the floor of the antigen binding site of the class I MHC molecule H-2Kd influence peptide presentation‏ ‎‡9 1‏
919 ‎‡a morethanmeetstheeyemonogenicautoimmunitystrikesagain‏ ‎‡A More than Meets the Eye: Monogenic Autoimmunity Strikes Again‏ ‎‡9 1‏
919 ‎‡a monogenicmutationsdifferentiallyaffectthequantityandqualityoftfollicularhelpercellsinpatientswithhumanprimaryimmunodeficiencies‏ ‎‡A Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies‏ ‎‡9 1‏
919 ‎‡a monoclonalantibodymediatedneutralizationofsarscov2inanirf9deficientchild‏ ‎‡A Monoclonal antibody-mediated neutralization of SARS-CoV-2 in an IRF9-deficient child‏ ‎‡9 1‏
919 ‎‡a molecularmechanismsofmucocutaneousimmunityagainstcandidaandstaphylococcusspecies‏ ‎‡A Molecular mechanisms of mucocutaneous immunity against Candida and Staphylococcus species.‏ ‎‡9 1‏
919 ‎‡a molecularimmunologicalandclinicalfeaturesof16iranianpatientswithmendeliansusceptibilitytomycobacterialdisease‏ ‎‡A Molecular, Immunological, and Clinical Features of 16 Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease‏ ‎‡9 1‏
919 ‎‡a microdeletiononchromosome8p231inafamilialformofsevereburuliulcer‏ ‎‡A Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli ulcer.‏ ‎‡9 1‏
919 ‎‡a microbialdiseasespectrumlinkedtoanovelil12rβ1nterminalsignalpeptidestopgainhomozygousmutationwithparadoxicalreceptorcellsurfaceexpression‏ ‎‡A Microbial Disease Spectrum Linked to a Novel IL-12Rβ1 N-Terminal Signal Peptide Stop-Gain Homozygous Mutation with Paradoxical Receptor Cell-Surface Expression‏ ‎‡9 1‏
919 ‎‡a meningiteabacilluscereuschez1nourrissonaudecoursdunsyndromedereye‏ ‎‡A Méningite à Bacillus cereus chez un nourrisson au décours d'un syndrome de Reye‏ ‎‡9 1‏
919 ‎‡a mendeliantraitsthatconferpredispositionorresistancetospecificinfectionsinhumans‏ ‎‡A Mendelian traits that confer predisposition or resistance to specific infections in humans‏ ‎‡9 1‏
919 ‎‡a mendeliansusceptibilitytomycobacterialinfectioninman‏ ‎‡A Mendelian susceptibility to mycobacterial infection in man‏ ‎‡9 1‏
919 ‎‡a mendeliansusceptibilitytomycobacterialdiseasemsmdclinicalandgeneticfeaturesof32iranianpatients‏ ‎‡A Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients‏ ‎‡9 1‏
919 ‎‡a mendeliansusceptibilitytomycobacterialdiseaseinegyptianchildren‏ ‎‡A Mendelian susceptibility to mycobacterial disease in egyptian children‏ ‎‡9 1‏
919 ‎‡a mendeliansusceptibilitytomycobacterialdiseasegeneticimmunologicalandclinicalfeaturesofinbornerrorsofifnγimmunity‏ ‎‡A Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity‏ ‎‡9 1‏
919 ‎‡a mendeliansusceptibilitytomycobacterialdiseaseduetoil12rβ1deficiencyin3iranianchildren‏ ‎‡A Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children‏ ‎‡9 1‏
919 ‎‡a mendeliansusceptibilitytomycobacterialdiseasecausedbyanovelfounderil12bmutationinsaudiarabia‏ ‎‡A Mendelian Susceptibility to Mycobacterial Disease Caused by a Novel Founder IL12B Mutation in Saudi Arabia.‏ ‎‡9 1‏
919 ‎‡a mendeliansusceptibilitytomycobacterialdisease20142018update‏ ‎‡A Mendelian susceptibility to mycobacterial disease: 2014-2018 update‏ ‎‡9 1‏
919 ‎‡a mendelianpredispositiontoherpessimplexencephalitis‏ ‎‡A Mendelian predisposition to herpes simplex encephalitis‏ ‎‡9 1‏
919 ‎‡a mechanismsofgenotypephenotypecorrelationinautosomaldominantanhidroticectodermaldysplasiawithimmunedeficiency‏ ‎‡A Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency‏ ‎‡9 1‏
919 ‎‡a mechanismofdysfunctionofhumanvariantsoftheirak4kinaseandaroleforitskinaseactivityininterleukin1receptorsignaling‏ ‎‡A Mechanism of dysfunction of human variants of the IRAK4 kinase and a role for its kinase activity in interleukin-1 receptor signaling‏ ‎‡9 1‏
919 ‎‡a majorlocionchromosomes8qand3qcontrolinterferonγproductiontriggeredbybacilluscalmetteguerinand6kdaearlysecretoryantigentargetrespectivelyinvariouspopulations‏ ‎‡A Major Loci on Chromosomes 8q and 3q Control Interferon γ Production Triggered by Bacillus Calmette-Guerin and 6-kDa Early Secretory Antigen Target, Respectively, in Various Populations‏ ‎‡9 1‏
919 ‎‡a majorhistocompatibilitycomplexclass2expressiondeficiencycausedbyarfxankfoundermutationasurveyof35patients‏ ‎‡A Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients‏ ‎‡9 1‏
919 ‎‡a macrophagesinducedifferentiationofplasmacellsthroughcxcl10ip10‏ ‎‡A Macrophages induce differentiation of plasma cells through CXCL10/IP-10‏ ‎‡9 1‏
919 ‎‡a lubacanewfunctioninimmunity‏ ‎‡A LUBAC: A new function in immunity‏ ‎‡9 1‏
919 ‎‡a lowpenetrancebroadresistanceandfavorableoutcomeofinterleukin12receptorbeta1deficiencymedicalandimmunologicalimplications‏ ‎‡A Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications‏ ‎‡9 1‏
919 ‎‡a lossofbcellsinpatientswithheterozygousmutationsinikaros‏ ‎‡A Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.‏ ‎‡9 1‏
919 ‎‡a longtermoutcomeafterhematopoieticstemcelltransplantationofasinglecentercohortof90patientswithseverecombinedimmunodeficiency‏ ‎‡A Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency‏ ‎‡9 1‏
919 ‎‡a listeriamonocytogenesandrecurrentmycobacterialinfectionsinachildwithcompleteinterferongammareceptorifngammar1deficiencymutationalanalysisandevaluationoftherapeuticoptions‏ ‎‡A Listeria monocytogenes and recurrent mycobacterial infections in a child with complete interferon-gamma-receptor (IFNgammaR1) deficiency: mutational analysis and evaluation of therapeutic options‏ ‎‡9 1‏
919 ‎‡a line1mediatedaluya5insertionunderlyingcompleteautosomalrecessiveifnγr1deficiency‏ ‎‡A LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency‏ ‎‡9 1‏
919 ‎‡a lifethreateninginfluenzapneumonitisinachildwithinheritedirf9deficiency‏ ‎‡A Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency‏ ‎‡9 1‏
919 ‎‡a lifethreateninginfectiousdiseasesofchildhoodsinglegeneinbornerrorsofimmunity‏ ‎‡A Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity?‏ ‎‡9 1‏
919 ‎‡a lifethreateninginfectionsduetoliveattenuatedvaccinesearlymanifestationsofinbornerrorsofimmunity‏ ‎‡A Life-Threatening Infections Due to Live-Attenuated Vaccines: Early Manifestations of Inborn Errors of Immunity‏ ‎‡9 1‏
919 ‎‡a lifethreateningcovid19defectiveinterferonsunleashexcessiveinflammation‏ ‎‡A Life-Threatening COVID-19: Defective Interferons Unleash Excessive Inflammation‏ ‎‡9 1‏
919 ‎‡a leukocyteadhesiondeficiencytype1lad1withexpressedbutnonfunctionalcd11cd18‏ ‎‡A Leukocyte Adhesion Deficiency Type 1 (LAD1) with Expressed but Nonfunctional CD11/CD18.‏ ‎‡9 1‏
919 ‎‡a leukocyteadhesiondeficiencytype1‏ ‎‡A Leukocyte Adhesion Deficiency Type 1‏ ‎‡9 1‏
919 ‎‡a lethaltuberculosisinapreviouslyhealthyadultwithil12receptordeficiency‏ ‎‡A Lethal tuberculosis in a previously healthy adult with IL-12 receptor deficiency‏ ‎‡9 1‏
919 ‎‡a lethalinfluenzain2relatedadultswithinheritedgata2deficiency‏ ‎‡A Lethal Influenza in Two Related Adults with Inherited GATA2 Deficiency‏ ‎‡9 1‏
919 ‎‡a lethalinfectiousdiseasesasinbornerrorsofimmunitytowardasynthesisofthegermandgenetictheories‏ ‎‡A Lethal Infectious Diseases as Inborn Errors of Immunity: Toward a Synthesis of the Germ and Genetic Theories‏ ‎‡9 1‏
919 ‎‡a lessonslearnedfromthestudyofhumaninbornerrorsofinnateimmunity‏ ‎‡A Lessons learned from the study of human inborn errors of innate immunity‏ ‎‡9 1‏
919 ‎‡a lackofinteractionbetweennemoandsharpinimpairslinearubiquitinationandnfκbactivationandleadstoincontinentiapigmenti‏ ‎‡A Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti‏ ‎‡9 1‏
919 ‎‡a laboratoryevaluationoftheifnγcircuitforthemoleculardiagnosisofmendeliansusceptibilitytomycobacterialdisease‏ ‎‡A Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.‏ ‎‡9 1‏
919 ‎‡a laboratorydiagnosisofspecificantibodydeficiencytopneumococcalcapsularpolysaccharideantigensbymultiplexedbeadassay‏ ‎‡A Laboratory diagnosis of specific antibody deficiency to pneumococcal capsular polysaccharide antigens by multiplexed bead assay‏ ‎‡9 1‏
919 ‎‡a kawasakilikemultisysteminflammatorysyndromeinchildrenduringthecovid19pandemicinparisfranceprospectiveobservationalstudy‏ ‎‡A Kawasaki-like multisystem inflammatory syndrome in children during the covid-19 pandemic in Paris, France: prospective observational study‏ ‎‡9 1‏
919 ‎‡a kaposisarcomaoralmalformationsmitraldysplasiaandscoliosisassociatedwith7q34q363heterozygousterminaldeletion‏ ‎‡A Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletion.‏ ‎‡9 1‏
919 ‎‡a kaposisarcomaofchildhoodinbornoracquiredimmunodeficiencytooncogenichhv8‏ ‎‡A Kaposi Sarcoma of Childhood: Inborn or Acquired Immunodeficiency to Oncogenic HHV-8‏ ‎‡9 1‏
919 ‎‡a kaposissarcomainachildwithwiskottaldrichsyndrome‏ ‎‡A Kaposi’s sarcoma in a child with Wiskott-Aldrich syndrome‏ ‎‡9 1‏
943 ‎‡a 201x‏ ‎‡A 2015‏ ‎‡9 1‏
943 ‎‡a 200x‏ ‎‡A 2005‏ ‎‡9 1‏
943 ‎‡a 202x‏ ‎‡A 2020‏ ‎‡9 1‏
946 ‎‡a b‏ ‎‡9 1‏
947 ‎‡a FR‏ ‎‡9 1‏
996 ‎‡2 BNC|981061194921906706‏
996 ‎‡2 LIH|LNB:B8_x_K;=B_j_‏
996 ‎‡2 RERO|A018873057‏
996 ‎‡2 DNB|1157406912‏
996 ‎‡2 ISNI|0000000000365393‏
996 ‎‡2 BNF|13325036‏
996 ‎‡2 ISNI|0000000000117648‏
996 ‎‡2 ISNI|0000000006540519‏
996 ‎‡2 PTBNP|1895242‏
996 ‎‡2 BNF|16529027‏
996 ‎‡2 CAOONL|ncf11734721‏
996 ‎‡2 SUDOC|181069792‏
996 ‎‡2 BNF|17982651‏
996 ‎‡2 RERO|A011119445‏
996 ‎‡2 NTA|079525350‏
996 ‎‡2 NLA|000061541726‏
996 ‎‡2 SUDOC|243405499‏
996 ‎‡2 SUDOC|243747128‏
996 ‎‡2 SUDOC|197171443‏
996 ‎‡2 BNE|XX846773‏
996 ‎‡2 ISNI|0000000001306408‏
996 ‎‡2 BNC|981058512068206706‏
996 ‎‡2 BNE|XX6178649‏
996 ‎‡2 SUDOC|078050197‏
996 ‎‡2 BIBSYS|90190693‏
996 ‎‡2 BNF|14516965‏
996 ‎‡2 SUDOC|243697082‏
996 ‎‡2 LC|no2011068598‏
996 ‎‡2 DNB|1230996788‏
996 ‎‡2 BNF|17958141‏
996 ‎‡2 BIBSYS|10063785‏
996 ‎‡2 LC|n 80004421‏
996 ‎‡2 SUDOC|032988060‏
996 ‎‡2 ISNI|0000000030180090‏
996 ‎‡2 ISNI|0000000504839468‏
996 ‎‡2 BNF|12390272‏
996 ‎‡2 NSK|000011805‏
996 ‎‡2 BNC|981058513731806706‏
996 ‎‡2 RERO|A011549198‏
996 ‎‡2 BNC|981058522001306706‏
996 ‎‡2 ISNI|0000000079715105‏
996 ‎‡2 BNCHL|10000000000000000839398‏
996 ‎‡2 LC|no2004087316‏
996 ‎‡2 RERO|A016814937‏
996 ‎‡2 J9U|987007384061305171‏
996 ‎‡2 RERO|A011380378‏
996 ‎‡2 NUKAT|n 2004039749‏
996 ‎‡2 LC|no2018061333‏
996 ‎‡2 RERO|A024303607‏
996 ‎‡2 BIBSYS|14011128‏
996 ‎‡2 LC|n 86844706‏
996 ‎‡2 LC|no2019153699‏
996 ‎‡2 BNF|10941013‏
996 ‎‡2 B2Q|0000681897‏
996 ‎‡2 SUDOC|226790215‏
996 ‎‡2 BNCHL|10000000000000000179840‏
996 ‎‡2 ISNI|0000000027086757‏
996 ‎‡2 BNE|XX898253‏
996 ‎‡2 CAOONL|ncf10812904‏
996 ‎‡2 BNCHL|10000000000000000059581‏
996 ‎‡2 SUDOC|056859228‏
996 ‎‡2 SUDOC|23615933X‏
996 ‎‡2 CAOONL|ncf11657613‏
996 ‎‡2 BNCHL|10000000000000000108531‏
996 ‎‡2 SUDOC|169962121‏
996 ‎‡2 DBC|87097968199115‏
996 ‎‡2 ISNI|0000000113900321‏
996 ‎‡2 BNE|XX1504735‏
996 ‎‡2 ISNI|0000000003212405‏
996 ‎‡2 RERO|A003081246‏
996 ‎‡2 SUDOC|199810303‏
996 ‎‡2 LC|n 2019006574‏
996 ‎‡2 BNF|13996168‏
996 ‎‡2 J9U|987007323937105171‏
996 ‎‡2 BNCHL|10000000000000000215834‏
996 ‎‡2 SUDOC|256982473‏
996 ‎‡2 LC|no2022087871‏
996 ‎‡2 NTA|301794855‏
996 ‎‡2 SUDOC|035620501‏
997 ‎‡a 1963 0 lived 0614 0‏ ‎‡9 1‏
998 ‎‡a Casanova, Jean-Laurent‏ ‎‡2 SUDOC|073388726‏ ‎‡3 suggested‏ ‎‡3 title: (0.80, 'invasivefungalinfectionsandcard9deficiency', 'chronicandinvasivefungalinfectionsinafamilywithcard9deficiency')‏
998 ‎‡a Casanova, Jean-Laurent‏ ‎‡2 PLWABN|9810692741905606‏ ‎‡3 title: (0.96, 'disseminatedmycobacteriumtuberculosiscomplexinfectioninagirlwithpartialdominantifnγreceptor1deficiency', 'clinicalimmunologydisseminatedmycobacteriumtuberculosiscomplexinfectioninagirlwithpartialdominantifnγreceptor1deficiency')‏ ‎‡3 viafid‏
998 ‎‡a Casanova, Jean-Laurent‏ ‎‡2 DNB|144021471‏ ‎‡3 suggested‏ ‎‡3 standard number‏
998 ‎‡a Jean-Laurent Casanova‏ ‎‡2 ISNI|0000000113900321‏ ‎‡3 suggested‏
998 ‎‡a Casanova, Jean-Laurent‏ ‎‡2 ISNI|0000000113900321‏ ‎‡3 suggested‏
998 ‎‡a Casanova, Jean-Laurent‏ ‎‡2 LC|no2011014700‏ ‎‡3 suggested‏ ‎‡3 title: (0.73, 'inbornerrorsofimmunity1', 'humaninbornerrorsofimmunitytoherpesviruses')‏