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IL-17 T cells' defective differentiation in vitro despite normal range ex vivo in chronic mucocutaneous candidiasis due to STAT1 mutation.

作者信息

Mekki Najla, Ben-Mustapha Imen, Liu Luyan, Boussofara Lobna, Okada Satoshi, Cypowyj Sophie, Ghariani Najet, Saidi Wafa, Denguezli Mohamed, Casanova Jean-Laurent, Puel Anne, Barbouche Mohamed-Ridha

机构信息

Laboratory of Transmission, Control and Immunobiology of Infections (LR11IPT02), Institut Pasteur de Tunis and University Tunis El Manar, Tunis, Tunisia.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Necker Medical School, INSERM U980 and University Paris Descartes, Paris, France.

出版信息

J Invest Dermatol. 2014 Apr;134(4):1155-1157. doi: 10.1038/jid.2013.480. Epub 2013 Nov 11.

DOI:10.1038/jid.2013.480
PMID:24335902
Abstract
摘要

相似文献

[1]
IL-17 T cells' defective differentiation in vitro despite normal range ex vivo in chronic mucocutaneous candidiasis due to STAT1 mutation.

J Invest Dermatol. 2014-4

[2]
STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.

N Engl J Med. 2011-6-29

[3]
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[4]
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[5]
A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis.

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[6]
Identification of a distinct subset of disease-associated gain-of-function missense mutations in the STAT1 coiled-coil domain as system mutants.

Mol Immunol. 2019-7-20

[7]
Use of ruxolitinib to successfully treat chronic mucocutaneous candidiasis caused by gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation.

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[8]
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[9]
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[10]
A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis.

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引用本文的文献

[1]
Leveraging Systems Immunology to Optimize Diagnosis and Treatment of Inborn Errors of Immunity.

Front Syst Biol. 2022

[2]
Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.

J Clin Immunol. 2020-11

[3]
Bacille Calmette-Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010-2017.

Front Immunol. 2018-6-22

[4]
Lessons from Genetic Studies of Primary Immunodeficiencies in a Highly Consanguineous Population.

Front Immunol. 2017-6-27

[5]
Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.

J Allergy Clin Immunol. 2017-7

[6]
Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency.

Proc Natl Acad Sci U S A. 2016-12-20

[7]
Genetic Predictors of Susceptibility to Dermatophytoses.

Mycopathologia. 2016-8-8

[8]
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.

Blood. 2016-6-23

[9]
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.

J Clin Immunol. 2016-1

[10]
Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis.

J Exp Med. 2015-5-4

本文引用的文献

[1]
New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.

J Med Genet. 2013-5-24

[2]
Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis.

Haematologica. 2013-4-12

[3]
Exome sequencing reveals a signal transducer and activator of transcription 1 (STAT1) mutation in a child with recalcitrant cutaneous fusariosis.

J Allergy Clin Immunol. 2013-4

[4]
Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism.

J Clin Immunol. 2012-7-31

[5]
Herpes in STAT1 gain-of-function mutation [corrected].

Lancet. 2012-6-30

[6]
Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain.

J Immunol. 2012-6-22

[7]
STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis.

PLoS One. 2011-12-14

[8]
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

J Exp Med. 2011-7-4

[9]
STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.

N Engl J Med. 2011-6-29

[10]
Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity.

Science. 2011-2-24

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