Okada Satoshi
Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences.
Nihon Rinsho Meneki Gakkai Kaishi. 2017;40(2):109-117. doi: 10.2177/jsci.40.109.
Chronic mucocutaneous candidiasis (CMC) is an infectious phenotype which is characterized by recurrent or persistent infections affecting the nails, skin, and oral and genital mucosae caused by Candida species. Th17 cells produce interleukin-17 (IL-17) and play an important role in host mucosal immunity to Candida. Recent studies revealed that an impairment of IL-17 immunity underlies development of CMC. CMC disease (CMCD) is a primary immunodeficiency disease which is defined as CMC in patients in the absence of other prominent clinical signs. However, this definition is not strict. Thus, CMCD is currently used to refer to patients presenting with CMC as the main clinical phenotype. As well as CMCD, CMC is a major infectious phenotype in syndromic CMC. However, patients with syndromic CMC also present other clinical and infectious manifestations in addition to CMC. The genetic defects which affect development and/or proliferation of Th17 cells have been identified in patients with syndromic CMC. In contrast, germline mutations in the genes which directly involved in IL-17 signaling have been identified in patients with CMCD. Here, we review current knowledge of IL-17-signaling defects and the genetic etiologies of CMCD and syndromic CMC.
慢性黏膜皮肤念珠菌病（CMC）是一种感染性表型，其特征为念珠菌属引起的反复或持续性感染，累及指甲、皮肤以及口腔和生殖器黏膜。辅助性T细胞17（Th17细胞）产生白细胞介素-17（IL-17），在宿主对念珠菌的黏膜免疫中发挥重要作用。最近的研究表明，IL-17免疫功能受损是CMC发病的基础。慢性黏膜皮肤念珠菌病（CMCD）是一种原发性免疫缺陷病，定义为无其他明显临床体征的患者出现的CMC。然而，这个定义并不严格。因此，CMCD目前用于指以CMC为主要临床表型的患者。除了CMCD，CMC也是综合征性CMC中的一种主要感染性表型。然而，综合征性CMC患者除了CMC外还存在其他临床和感染表现。在综合征性CMC患者中已发现影响Th17细胞发育和/或增殖的基因缺陷。相比之下，在CMCD患者中已发现直接参与IL-17信号传导的基因的种系突变。在此，我们综述了目前关于IL-17信号缺陷以及CMCD和综合征性CMC的遗传病因的知识。
