Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes - sprookjes - yvandenbroek - TriplyDB

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes

http://www.wikidata.org/entity/Q26825342

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IL-23/IL-17A Dysfunction Phenotypes Inform Possible Clinical Effects from Anti-IL-17A Therapies Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity Oropharyngeal Candidiasis in HIV Infection: Analysis of Impaired Mucosal Immune Response to Candida albicans in Mice Expressing the HIV-1 Transgene Small molecules in the treatment of systemic lupus erythematosus Inducible, dose-adjustable and time-restricted reconstitution of STAT1 deficiency in vivo Understanding rare and common diseases in the context of human evolution STAT2 deficiency and susceptibility to viral illness in humans Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome Molecular 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 Immunodeficiencies Immune 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 infections Interferons, 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 STAT1 Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis Naturally Occurring Subclinical Endotoxemia in Humans Alters Adaptive and Innate Immune Functions through Reduced MAPK and Increased STAT1 Phosphorylation Genomic Signatures of Selective Pressures and Introgression from Archaic Hominins at Human Innate Immunity Genes Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis.Response to interferons and antibacterial innate immunity in the absence of tyrosine-phosphorylated STAT1 A genetic perspective on granulomatous diseases with an emphasis on mycobacterial infections.Genomic modulators of the immune response Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome Molecular mechanisms of mucocutaneous immunity against Candida and Staphylococcus species.Immunity to infection in IL-17-deficient mice and humans New 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 osteomyelitis Naive 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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Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes

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Inborn errors of human STAT1: ...... ical and infectious phenotypes

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J.COI.2012.04.011

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Current Opinion in Immunology

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Inborn errors of human STAT1: ...... ical and infectious phenotypes

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Sophie Cypowyj

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Xiao-Fei Kong

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Nucleocytoplasmic translocation of Stat1 is regulated by a leucine-rich export signal in the coiled-coil domain

Structural bases of unphosphorylated STAT1 association and receptor binding

Cutting edge: role of IL-27/WSX-1 signaling for induction of T-bet through activation of STAT1 during initial Th1 commitment

Identification of a nuclear Stat1 protein tyrosine phosphatase

Crystal structure of a tyrosine phosphorylated STAT-1 dimer bound to DNA

IFN-lambdas mediate antiviral protection through a distinct class II cytokine receptor complex

Genetic variation in IL28B and spontaneous clearance of hepatitis C virus

Tyrosine phosphorylation regulates the partitioning of STAT1 between different dimer conformations

Type I IFN controls chikungunya virus via its action on nonhematopoietic cells

Impaired development of CD4+ CD25+ regulatory T cells in the absence of STAT1: increased susceptibility to autoimmune disease.

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364-78

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2652869

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10.1016/J.COI.2012.04.011

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Jean-Laurent Casanova

Stephanie Boisson-Dupuis

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2012-08-01T00:00:00Z

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22651901

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