about
Whole-exome-sequencing-based discovery of human FADD deficiencyInborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypesPrimary immunodeficiencies of pattern recognition receptorsMendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunityInducible, dose-adjustable and time-restricted reconstitution of STAT1 deficiency in vivoConditional Stat1 ablation reveals the importance of interferon signaling for immunity to Listeria monocytogenes infection'"Why me, why now?" Using clinical immunology and epidemiology to explain who gets nontuberculous mycobacterial infectionFlow Cytometry, a Versatile Tool for Diagnosis and Monitoring of Primary ImmunodeficienciesHuman TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndromeHigh throughput screening for small molecule enhancers of the interferon signaling pathway to drive next-generation antiviral drug discoveryFifty-five-year-old man with chronic yeast infections.A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon.B cell-intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans.Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type ICellular and Molecular Defects Underlying Invasive Fungal Infections-Revelations from Endemic Mycoses.A novel STAT1 mutation associated with disseminated mycobacterial disease.Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis.Interferon-alpha induces high expression of APOBEC3G and STAT-1 in vitro and in vivo.A novel form of human STAT1 deficiency impairing early but not late responses to interferons.TLR3 deficiency in herpes simplex encephalitis: high allelic heterogeneity and recurrence risk.Interferon response and respiratory virus control are preserved in bronchial epithelial cells in asthma.Molecular immunity to mycobacteria: knowledge from the mutation and phenotype spectrum analysis of Mendelian susceptibility to mycobacterial diseases.Relevance of laboratory testing for the diagnosis of primary immunodeficiencies: a review of case-based examples of selected immunodeficiencies.Regulation of human Th9 differentiation by type I interferons and IL-21Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds.Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.NEMO is a key component of NF-κB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus.Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity.Severe viral infections and primary immunodeficiencies.Inherited and acquired immunodeficiencies underlying tuberculosis in childhood.Evolutionary genetic dissection of human interferons.Inborn errors of anti-viral interferon immunity in humans.Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases.Inborn errors of human JAKs and STATs.Recent insights into the pathobiology of innate immune deficienciesSTAT1-deficient mice are resistant to cecal ligation and puncture-induced septic shock.Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.A genetic perspective on granulomatous diseases with an emphasis on mycobacterial infections.Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial diseaseImmunity to infection in IL-17-deficient mice and humans
P2860
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P2860
description
2009 nî lūn-bûn
@nan
2009 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
A partial form of recessive STAT1 deficiency in humans.
@ast
A partial form of recessive STAT1 deficiency in humans.
@en
A partial form of recessive STAT1 deficiency in humans.
@nl
type
label
A partial form of recessive STAT1 deficiency in humans.
@ast
A partial form of recessive STAT1 deficiency in humans.
@en
A partial form of recessive STAT1 deficiency in humans.
@nl
prefLabel
A partial form of recessive STAT1 deficiency in humans.
@ast
A partial form of recessive STAT1 deficiency in humans.
@en
A partial form of recessive STAT1 deficiency in humans.
@nl
P2093
P2860
P50
P356
P1476
A partial form of recessive STAT1 deficiency in humans.
@en
P2093
Dan Engelhard
Diana Averbuch
Eleonore Mayola
Jacqueline Feinberg
Julien Lejeune
Ludovic de Beaucoudrey
Xiao-Fei Kong
P2860
P304
P356
10.1172/JCI37083
P407
P50
P577
2009-05-11T00:00:00Z