Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. - sprookjes - yvandenbroek - TriplyDB

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

http://www.wikidata.org/entity/Q35144610

about

A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant Harnessing Mechanistic Knowledge on Beneficial Versus Deleterious IFN-I Effects to Design Innovative Immunotherapies Targeting Cytokine Activity to Specific Cell Types Congenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 module IL-21 Signaling in Immunity Severe infectious diseases of childhood as monogenic inborn errors of immunity Interleukin 17-Mediated Host Defense against Candida albicans IL-17-Mediated Immunity to the Opportunistic Fungal Pathogen Candida albicans Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes STAT3 and the Hyper-IgE syndrome: Clinical presentation, genetic origin, pathogenesis, novel findings and remaining uncertainties The regulation of inflammation by interferons and their STATs Interleukin-27: balancing protective and pathological immunity Primary immunodeficiency update: Part II. Syndromes associated with mucocutaneous candidiasis and noninfectious cutaneous manifestations IL-23/IL-17A Dysfunction Phenotypes Inform Possible Clinical Effects from Anti-IL-17A Therapies IL-17 family: cytokines, receptors and signaling Protein tyrosine phosphatases as wardens of STAT signaling Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity Population genetic tools for dissecting innate immunity in humans Discovery of single-gene inborn errors of immunity by next generation sequencing Mucocutaneous candidiasis: the IL-17 pathway and implications for targeted immunotherapy Mendelian genetics of human susceptibility to fungal infection The environment-pathogen-host axis in communicable and non-communicable diseases: recent advances in experimental and clinical research Inducible, dose-adjustable and time-restricted reconstitution of STAT1 deficiency in vivo The IL-23-IL-17 immune axis: from mechanisms to therapeutic testing Mechanisms underlying helper T-cell plasticity: implications for immune-mediated disease.Unbalanced Immune System: Immunodeficiencies and Autoimmunity Flow Cytometry, a Versatile Tool for Diagnosis and Monitoring of Primary Immunodeficiencies Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome IL-22 and IDO1 affect immunity and tolerance to murine and human vaginal candidiasis Fifty-five-year-old man with chronic yeast infections.Computational approaches for discovery of common immunomodulators in fungal infections: towards broad-spectrum immunotherapeutic interventions.A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.A Novel Heterozygous Mutation in the STAT1 SH2 Domain Causes Chronic Mucocutaneous Candidiasis, Atypically Diverse Infections, Autoimmunity, and Impaired Cytokine Regulation 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 Hyperimmunoglobulin E syndrome: Genetics, immunopathogenesis, clinical findings, and treatment modalities Therapeutic modulators of STAT signalling for human diseases Skin microbiome imbalance in patients with STAT1/STAT3 defects impairs innate host defense responses.Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders: an evolving web of heritable autoimmune diseases.Induction and activation of human Th17 by targeting antigens to dendritic cells via dectin-1.Three immune-mediated disease models induced by Theiler's virus: Multiple sclerosis, seizures and myocarditis.Cellular and Molecular Defects Underlying Invasive Fungal Infections-Revelations from Endemic Mycoses.

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Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

http://www.wikidata.org/entity/Q35144610

description

2011 nî lūn-bûn

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2011 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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2011 թվականի հուլիսին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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name

Gain-of-function human STAT1 m ...... nic mucocutaneous candidiasis.

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Gain-of-function human STAT1 m ...... nic mucocutaneous candidiasis.

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Gain-of-function human STAT1 m ...... nic mucocutaneous candidiasis.

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Gain-of-function human STAT1 m ...... nic mucocutaneous candidiasis.

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Journal of Experimental Medicine

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Gain-of-function human STAT1 m ...... nic mucocutaneous candidiasis.

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Alexandra Y Kreins

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Alexandre Bolze

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Amos Etzioni

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Annette F Jansson

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Antoine Toulon

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Avinash Abhyankar

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Barbara Drexel

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Beata Toth

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Bernd Belohradsky

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Carlos Torres Lozano

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P2860

Whole-exome-sequencing-based discovery of human FADD deficiency

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

An immune defect causing dominant chronic mucocutaneous candidiasis and thyroid disease maps to chromosome 2p in a single family.

Exome sequencing identifies the cause of a mendelian disorder

Fast and accurate short read alignment with Burrows-Wheeler transform

A homozygous CARD9 mutation in a family with susceptibility to fungal infections

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

A method and server for predicting damaging missense mutations

Interleukin-21: Basic Biology and Implications for Cancer and Autoimmunity

Stats: transcriptional control and biological impact

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1635-1648

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10.1084/JEM.20110958

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8

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208

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Jean-Laurent Casanova

Olivier Lortholary

Emmanuelle Jouanguy

Capucine Picard

Stephanie Boisson-Dupuis

Jacinta Bustamante

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2011-07-04T00:00:00Z

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51465384

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21727188

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3149226

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