口腔医学研究

口腔医学研究 ›› 2024, Vol. 40 ›› Issue (7): 629-633.DOI: 10.13701/j.cnki.kqyxyj.2024.07.011

• 牙体牙髓病学研究 • 上一篇    下一篇

STAT1突变致慢性皮肤黏膜念珠菌病的临床特点分析

林琳1,2, 赵晓娴1, 姚一琳1, 张颖1, 黄润语1, 吴岚1*   

  1. 1.上海交通大学医学院附属第九人民医院口腔黏膜病科,上海交通大学口腔医学院,国家口腔医学中心,国家口腔疾病临床医学研究中心,上海市口腔医学重点实验室,上海市口腔医学研究所 上海 200011;
    2.南京大学医学院附属口腔医院口腔黏膜病科,南京市口腔医院,南京大学口腔医学研究所 江苏 南京 210008
  • 收稿日期:2023-11-20 出版日期:2024-07-28 发布日期:2024-07-24
  • 通讯作者: *吴岚,E-mail:teana_wu@sina.com
  • 作者简介:林琳(1988~ ),女,浙江人,硕士,主治医师,研究方向:口腔黏膜病学。
  • 基金资助:
    上海市科委基金(编号:21S21902000);南京大学医学院附属口腔医院3456骨干人才资助项目(编号:0222C113)

Features of Chronic Mucocutaneous Candidiasis Resulting from STAT1 Mutation

LIN Lin1,2, ZHAO Xiaoxian1, YAO Yilin1, ZHANG Ying1, HUANG Runyu1, WU Lan1*   

  1. 1. Department of Oral Mucosal Diseases, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine; College of Stomatology, Shanghai Jiao Tong University; National Center for Stomatology; National Clinical Research Center for Oral Diseases; Shanghai Key Laboratory of Stomatology, Shanghai Research Institute of Stomatology, Shanghai 200011, China;
    2. Department of Oral Mucosal Diseases, Nanjing Stomatological Hospital, Affiliated Hospital of Medical School, Institute of Stomatology, Nanjing University, Nanjing 210008, China
  • Received:2023-11-20 Online:2024-07-28 Published:2024-07-24

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摘要： 目的:分析信号转导与转录激活因子1(signal transducer activator of transcription 1,STAT1)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,STAT1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。

关键词: 慢性皮肤黏膜念珠菌病, 信号转导与转录激活因子1, 功能获得性突变, 致病机制

Abstract: 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 Hospital, 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 exhibited 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-function mutations was confirmed through genetic testing. These mutations in STAT1 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 intervention. Furthermore, long-term follow-up is imperative in order to mitigate potential adverse outcomes.

Key words: chronic mucocutaneous candidiasis, signal transducer activator of transcription 1, gain-of-function mutation, pathogenic mechanism