Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis
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Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunityMechanism-Based Strategies for the Management of Autoimmunity and Immune Dysregulation in Primary ImmunodeficienciesFlow Cytometry, a Versatile Tool for Diagnosis and Monitoring of Primary ImmunodeficienciesHeterozygous 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 candidiasisThe Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1Chronic mucocutaneous candidiasis: characterization of a family with STAT-1 gain-of-function and development of an ex-vivo assay for Th17 deficiency of diagnostic utility.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.Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.Nuclear RNF2 inhibits interferon function by promoting K33-linked STAT1 disassociation from DNA.Chronic mucocutaneous candidiasis: what can we conclude about IL-17 antagonism?New and recurrent STAT1 mutations in seven Chinese patients with chronic mucocutaneous candidiasis.Bacille Calmette–Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010–2017.
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P2860
Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis
description
article científic
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article scientifique
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articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 16 December 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Simple diagnosis of STAT1 gain ...... onic mucocutaneous candidiasis
@en
Simple diagnosis of STAT1 gain ...... nic mucocutaneous candidiasis.
@nl
type
label
Simple diagnosis of STAT1 gain ...... onic mucocutaneous candidiasis
@en
Simple diagnosis of STAT1 gain ...... nic mucocutaneous candidiasis.
@nl
prefLabel
Simple diagnosis of STAT1 gain ...... onic mucocutaneous candidiasis
@en
Simple diagnosis of STAT1 gain ...... nic mucocutaneous candidiasis.
@nl
P2093
P2860
P50
P356
P1476
Simple diagnosis of STAT1 gain ...... onic mucocutaneous candidiasis
@en
P2093
Hideki Muramatsu
Kohsuke Imai
Masao Kobayashi
Miyuki Tsumura
Nobuyuki Hyakuna
Osamu Hirata
Sachiyo Takeda
Seiji Kojima
Shin'ichiro Yasunaga
Shizuko Minegishi
P2860
P304
P356
10.1189/JLB.0513250
P577
2013-12-16T00:00:00Z