目的:分析信号转导与转录激活因子1(signal transducer activator of transcription 1,ST AT1)基因突变致慢性皮肤黏膜念珠菌病(chronic mucocutaneous candidiasis,CMC)的口腔表现、临床特点和致病机制.方法:选取上海交通大学医学院附属第九人民医院口腔黏膜病科2018～2023年确诊为CMC的患者3例,对其临床资料进行分析归纳,并进行文献回顾分析.结果:3例患者中,男2例,女1例,发病年龄1～4岁,3例患者均出现口腔黏膜反复念珠菌感染,2例反复皮肤和指趾甲真菌感染,1例复发性角膜炎,1例呼吸道感染.基因检测证实均存在STAT1功能获得性突变,ST AT1突变导致辅助性T细胞17发育缺陷和信号通路功能受损是CMC发生发展的重要原因.结论:反复皮肤黏膜念珠菌感染是CMC的重要临床表现,完善相关基因检测有助于早期诊断,需要长期随访以减少不良结局的产生.
Features of Chronic Mucocutaneous Candidiasis Resulting from STAT1 Mutation
Objective:To investigate the oral manifestations,clinical characteristics,and pathogenesis of chronic mucocutaneous candidiasis(CMC)resulting from signal transducer activator of transcription 1(STAT1)mutation.Methods:Three patients diagnosed with CMC at the Department of Oral Mucosal Diseases,Ninth People's Hospi-tal,Shanghai Jiao Tong University School of Medicine,between 2018 and 2023 were selected.Their clinical data were meticulously analyzed and summarized in conjunction with a comprehensive literature review.Results:Among three patients,two were male and one was female.The age of onset ranged from 1 to 4 years.All three patients ex-hibited recurrent candida infection in oral mucosa,while two experienced recurring fungal infections in their skin and toenails.Additionally,one patient had recurrent keratitis and another suffered from respiratory tract infection.The presence of STAT1 gain-of-f unction mutations was confirmed through genetic testing.These mutations in ST AT1 resulted in the developmental defects of helper T cell 17 and impaired the signaling pathway function,which was a significant contributing factor to CMC.Conclusion:Recurrent mucocutaneous candidiasis represents a significant clinical manifestation of CMC.Enhanced gene detection techniques contribute to the early diagnosis,thereby facilitating timely in-tervention.Furthermore,long-term follow-up is imperative in order to mitigate potential adverse outcomes.
chronic mucocutaneous candidiasissignal transducer activator of transcription 1gain-of-function mutationpathogenic mechanism
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