由于STAT1突变，慢性黏膜皮肤念珠菌病患者体内白细胞介素-17 T细胞在体外分化存在缺陷，尽管其体内水平处于正常范围。 - Suppr

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

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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.由于STAT1突变，慢性黏膜皮肤念珠菌病患者体内白细胞介素-17 T细胞在体外分化存在缺陷，尽管其体内水平处于正常范围。

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New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.来自东欧和中欧的慢性黏膜皮肤念珠菌病患者中新发和复发的功能获得性 STAT1 突变。

J Med Genet. 2013 Sep;50(9):567-78. doi: 10.1136/jmedgenet-2013-101570. Epub 2013 May 24.

Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis.杂合子 Y701C STAT1 突变与多灶性骨髓炎的家系研究。

Haematologica. 2013 Oct;98(10):1641-9. doi: 10.3324/haematol.2013.083741. Epub 2013 Apr 12.

Exome sequencing reveals a signal transducer and activator of transcription 1 (STAT1) mutation in a child with recalcitrant cutaneous fusariosis.外显子组测序揭示了一名患有顽固性皮肤镰刀菌病儿童的信号转导及转录激活因子1（STAT1）突变。

J Allergy Clin Immunol. 2013 Apr;131(4):1242-3. doi: 10.1016/j.jaci.2012.11.005. Epub 2012 Dec 14.

Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism.常染色体显性遗传慢性黏膜皮肤念珠菌病伴 STAT1 基因突变可并发慢性活动性肝炎和甲状腺功能减退症。

J Clin Immunol. 2012 Dec;32(6):1213-20. doi: 10.1007/s10875-012-9744-6. Epub 2012 Jul 31.

Herpes in STAT1 gain-of-function mutation [corrected].信号转导和转录激活因子1功能获得性突变导致的疱疹[已修正]

Lancet. 2012 Jun 30;379(9835):2500. doi: 10.1016/S0140-6736(12)60365-1.

Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain.由 STAT1 DNA 结合域功能获得性突变引起的慢性黏膜皮肤念珠菌病。

J Immunol. 2012 Aug 1;189(3):1521-6. doi: 10.4049/jimmunol.1200926. Epub 2012 Jun 22.

STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis.常染色体显性遗传慢性黏膜皮肤念珠菌病存在 STAT1 过度磷酸化和 IL12R/IL23R 信号转导缺陷，导致免疫功能缺陷。

PLoS One. 2011;6(12):e29248. doi: 10.1371/journal.pone.0029248. Epub 2011 Dec 14.

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.功能获得性人类 STAT1 突变会损害 IL-17 免疫，并导致慢性黏膜皮肤念珠菌病。

J Exp Med. 2011 Aug 1;208(8):1635-48. doi: 10.1084/jem.20110958. Epub 2011 Jul 4.

STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.常染色体显性遗传慢性黏膜皮肤念珠菌病中的 STAT1 突变。

N Engl J Med. 2011 Jul 7;365(1):54-61. doi: 10.1056/NEJMoa1100102. Epub 2011 Jun 29.

Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity.人类白细胞介素-17 免疫先天缺陷导致的慢性黏膜皮肤念珠菌病。

Science. 2011 Apr 1;332(6025):65-8. doi: 10.1126/science.1200439. Epub 2011 Feb 24.

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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.

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