功能获得性信号转导和转录活化子1基因缺陷

Gain - of - function signal transducer and activator of transcription 1 deficiency

慢性皮肤黏膜念珠菌病（CMC）特征为持续或反复指甲、皮肤、口腔或生殖道黏膜白色念珠菌感染，可由各种免疫内在缺陷引起。CMC可见于T淋巴细胞免疫缺陷病、高IgE综合征、白细胞介素（IL）－12p40和IL－12受体β1（IL－12Rβ1）缺陷、Caspase募集结构域9缺陷和自身免疫性多内分泌病念珠菌病外胚层发育不良。CMC的发病机制提示IL－17A、IL－17F、IL－22免疫受损。常染色体隐性遗传IL－17RA缺陷，显性负调节的IL－17F突变是孤立的CMC（CMCD）的病因。近一半的CMCD患者由功能获得性信号转导和转录活化子1突变所致。患者还有细菌感染、病毒感染、自身免疫和炎症疾病等，提示具有广阔的临床异质性。

Chronic mucocutaneous candidiasis （CMC） is characterized by persistent or recurrent disease of the nails, skin, oral, or genital mucosae caused by candida albicans.CMC usually can occur in patients with T cell deficiencies, autosomal dominant hyper-immunoglobulin E（IgE）syndrome, interleukin（IL）-12p40 and IL-12 receptor β1（IL-12Rβ1） deficiency, caspase recruiment domain 9 deficiency and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.CMC pathogenesis apparently involves the impairment of IL-17A, IL-17F and IL-22 immunity.Autosomal recessive IL-17RA deficiency and dominant-negative IL-17F deficiency are etiologies of pure isolated CMC （CMCD）. Nearly half of patients with CMC had gain-of-function signal transducer and activator of transcription 1 mutations.These patients also had bacterial and virus infections, autoimmunity and inflammatory diseases, which show broad clinical heterogenity.