Gain-of-function signal transducer and activator of transcription 1 deficiency
10.3760/cma.j.issn.2095-428X.2018.04.006
- VernacularTitle:功能获得性信号转导和转录活化子1基因缺陷
- Author:
Jianxin HE
1
Author Information
1. 100045 国家儿童医学中心,首都医科大学附属北京儿童医院呼吸科,国家呼吸系统疾病临床医学研究中心
- Keywords:
Gain-of-function signal transducer and activator of transcription 1 mutation;
Chronic mucocutaneous candidiasis;
Autoimmunity;
Inflammatory
- From:
Chinese Journal of Applied Clinical Pediatrics
2018;33(4):264-267
- CountryChina
- Language:Chinese
-
Abstract:
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.
