Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes
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IL-23/IL-17A Dysfunction Phenotypes Inform Possible Clinical Effects from Anti-IL-17A TherapiesMendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunityOropharyngeal Candidiasis in HIV Infection: Analysis of Impaired Mucosal Immune Response to Candida albicans in Mice Expressing the HIV-1 TransgeneSmall molecules in the treatment of systemic lupus erythematosusInducible, dose-adjustable and time-restricted reconstitution of STAT1 deficiency in vivoUnderstanding rare and common diseases in the context of human evolutionSTAT2 deficiency and susceptibility to viral illness in humansHuman TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndromeMolecular profile of cochlear immunity in the resident cells of the organ of Corti.A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.A 3-Year-Old Girl with Recurrent Infections and Autoimmunity due to a STAT1 Gain-of-Function Mutation: The Expanding Clinical Presentation of Primary ImmunodeficienciesImmune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders: an evolving web of heritable autoimmune diseases.STAT1β is not dominant negative and is capable of contributing to gamma interferon-dependent innate immunity.Primary immunodeficiencies underlying fungal infectionsInterferons, signal transduction pathways, and the central nervous system.Interferon alpha treatment of patients with impaired interferon gamma signaling.Stat1 negatively regulates immune-mediated injury with Anaplasma phagocytophilum infection.Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.Severe Early-Onset Combined Immunodeficiency due to Heterozygous Gain-of-Function Mutations in STAT1Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kindInherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasisNaturally Occurring Subclinical Endotoxemia in Humans Alters Adaptive and Innate Immune Functions through Reduced MAPK and Increased STAT1 PhosphorylationGenomic Signatures of Selective Pressures and Introgression from Archaic Hominins at Human Innate Immunity GenesInborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis.Response to interferons and antibacterial innate immunity in the absence of tyrosine-phosphorylated STAT1A genetic perspective on granulomatous diseases with an emphasis on mycobacterial infections.Genomic modulators of the immune responseDominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndromeMolecular mechanisms of mucocutaneous immunity against Candida and Staphylococcus species.Immunity to infection in IL-17-deficient mice and humansNew and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.Patients informing immunobiology: How disorders of IL-21 receptor signaling unravel pathways of CD8 T-cell function.Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8(+) T-cell memory formation and function.Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitisNaive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells.IL-21 signalling via STAT3 primes human naive B cells to respond to IL-2 to enhance their differentiation into plasmablasts.STAT1 regulates marginal zone B cell differentiation in response to inflammation and infection with blood-borne bacteria.Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity.The differential interferon responses of two strains of Stat1-deficient mice do not alter susceptibility to HSV-1 and VSV in vivo.Morbillivirus control of the interferon response: relevance of STAT2 and mda5 but not STAT1 for canine distemper virus virulence in ferrets.
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P2860
Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes
description
2012 nî lūn-bûn
@nan
2012 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Inborn errors of human STAT1: ...... ical and infectious phenotypes
@ast
Inborn errors of human STAT1: ...... ical and infectious phenotypes
@en
Inborn errors of human STAT1: ...... ical and infectious phenotypes
@nl
type
label
Inborn errors of human STAT1: ...... ical and infectious phenotypes
@ast
Inborn errors of human STAT1: ...... ical and infectious phenotypes
@en
Inborn errors of human STAT1: ...... ical and infectious phenotypes
@nl
prefLabel
Inborn errors of human STAT1: ...... ical and infectious phenotypes
@ast
Inborn errors of human STAT1: ...... ical and infectious phenotypes
@en
Inborn errors of human STAT1: ...... ical and infectious phenotypes
@nl
P2860
P50
P3181
P1476
Inborn errors of human STAT1: ...... ical and infectious phenotypes
@en
P2093
Sophie Cypowyj
Xiao-Fei Kong
P2860
P304
P3181
P356
10.1016/J.COI.2012.04.011
P407
P577
2012-08-01T00:00:00Z