IL-17 T cells' defective differentiation in vitro despite normal range ex vivo in chronic mucocutaneous candidiasis due to STAT1 mutation.
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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DOI：
10.1038/jid.2013.480
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发表时间：
2014-04
期刊：
影响因子：
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通讯作者：
N. Mekki;I. Ben‐Mustapha;Luyan Liu;L. Boussofara;S. Okada;Sophie Cypowyj;N. Ghariani;W. Saidi;M. Denguezli;J. Casanova;A. Puel;M. Barbouche
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文献类型：
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作者：
N. Mekki;I. Ben‐Mustapha;Luyan Liu;L. Boussofara;S. Okada;Sophie Cypowyj;N. Ghariani;W. Saidi;M. Denguezli;J. Casanova;A. Puel;M. Barbouche
慢性皮肤粘膜念珠菌病（CMCD）于1969年首次在临床上描述，其特征是皮肤和粘膜反复或持续感染白色念珠菌，没有或仅有少数其他临床表现（柯克帕特里克，2001; Lilic，2002）。2011年，Puel et al.（2011）发现了CMCD背后的IL-17免疫的第一个先天性缺陷：完全常染色体隐性IL-17 RA和部分常染色体显性（AD）IL-17 F缺陷。AD CMCD已经被证明是由STAT 1基因的卷曲螺旋结构域中的杂合突变引起的（Liu et al.，2011; Smeekens等人，2011;货车de
Chronic mucocutaneous candidiasis disease (CMCD), first described clinically in 1969, is characterized by recurrent or persistent infections of the skin and mucosae with Candida albicans with no or a few other clinical manifestations (Kirkpatrick, 2001; Lilic, 2002). In 2011, Puel et al.(2011) identified the first inborn errors of IL-17 immunity underlying CMCD: complete autosomal-recessive IL-17RA and partial autosomal-dominant(AD) IL-17F deficiencies. AD CMCD has since been shown to be caused by heterozygous mutations in the coiled-coil domain of the STAT1 gene (Liu et al., 2011; Smeekens et al., 2011; van de