Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.
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Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunityMendelian genetics of human susceptibility to fungal infectionAdvances in basic and clinical immunology in 2013Host response to Candida albicans bloodstream infection and sepsisInducible, dose-adjustable and time-restricted reconstitution of STAT1 deficiency in vivoUnbalanced Immune System: Immunodeficiencies and AutoimmunityIs there a (host) genetic predisposition to progressive multifocal leukoencephalopathy?Recent advances in our understanding of the environmental, epidemiological, immunological, and clinical dimensions of coccidioidomycosis2016 Infectious Diseases Society of America (IDSA) Clinical Practice Guideline for the Treatment of Coccidioidomycosis.Fifty-five-year-old man with chronic yeast infections.A 3-Year-Old Girl with Recurrent Infections and Autoimmunity due to a STAT1 Gain-of-Function Mutation: The Expanding Clinical Presentation of Primary ImmunodeficienciesA Nationwide Study of Severe and Protracted Diarrhoea in Patients with Primary Immunodeficiency DiseasesCellular and Molecular Defects Underlying Invasive Fungal Infections-Revelations from Endemic Mycoses.Primary immunodeficiencies underlying fungal infectionsGain-of-function signal transducer and activator of transcription 1 (STAT1) mutation-related primary immunodeficiency is associated with disseminated mucormycosisSTAT1 signaling is essential for protection against Cryptococcus neoformans infection in mice.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 STAT1Clinically relevant dimer interface mutants of STAT1 transcription factor exhibit differential gene expression.Candida albicans morphology and dendritic cell subsets determine T helper cell differentiation.Immunological 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 candidiasisDust devil: the life and times of the fungus that causes valley Fever.When the Fight against Fungi Goes WrongThe Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1GATA2 deficiency underlying severe blastomycosis and fatal herpes simplex virus-associated hemophagocytic lymphohistiocytosisProgressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature.An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis.Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency.Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity.Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasisRisk Factors for Disseminated Coccidioidomycosis, United States.Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families.Immune Response to Coccidioidomycosis and the Development of a Vaccine.Novel Stat1 Mutation Disrupts Small Ubiquitin-Related Modifier (Sumo) Conjugation Causing Gain Of Function.Autoimmune Regulator Deficiency Results in a Decrease in STAT1 Levels in Human Monocytes.STAT1 Represses Cytokine-Producing Group 2 and Group 3 Innate Lymphoid Cells during Viral Infection.Periodontal and other oral manifestations of immunodeficiency diseases.Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC).Targeted strategies directed at the molecular defect: Toward precision medicine for select primary immunodeficiency disorders.
P2860
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P2860
Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 28 March 2013
@en
vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
@cs
name
Signal transducer and activato ...... idomycosis and histoplasmosis.
@en
type
label
Signal transducer and activato ...... idomycosis and histoplasmosis.
@en
prefLabel
Signal transducer and activato ...... idomycosis and histoplasmosis.
@en
P2093
P2860
P1476
Signal transducer and activato ...... idomycosis and histoplasmosis.
@en
P2093
Brendan De Marco
Christa S Zerbe
Christine Spalding
Dalton L Dias
Daniel Johnson
Daniel S Carvalho
David E Greenberg
Debra A Long Priel
Donald C Vinh
P2860
P304
P356
10.1016/J.JACI.2013.01.052
P407
P50
P577
2013-03-28T00:00:00Z