Luo Mingfen, Huang Huan, Nie Hanhui, Liu Yinghui, Chen Yangxia, Zheng Fuying, Xi Liyan, Liu Hongfang
Dermatology Hospital, Southern Medical University, Guangzhou, China.
Dermatology Department, The Third People's Hospital of Huizhou, Huizhou, China.
Mycopathologia. 2024 Dec 20;190(1):3. doi: 10.1007/s11046-024-00912-8.
We presented a case of chronic mucocutaneous candidiasis (CMC) due to STAT1 GOF mutation with recurrent enteritis and intestinal obstruction. A 33-year-old woman complained of recurrent oral erosion and finger (toe) nails damage for over 30 years. Candida albicans were cultured from the oral mucosa and nails. Sanger sequencing revealed a gain-of-function mutation in STAT1 (c.A1159 G, p.T387A). Since the age of 37, she developed recurrent enteritis and intestinal obstruction. Laboratory examinations revealed an increased pSTAT1 protein expression and a decreased proportion of Th17 cells in peripheral blood lymphocyte (PBMC), with a high expression of pSTAT1 and scarce expression of IL17A observed in intestinal immunohistochemistry. Intestinal obstruction had not previously been reported as the main clinical manifestation in STAT1 GOF patients. We speculated that the low levels of IL17A impaired the intestinal barrier, which might lead to gastrointestinal disorders in this patient. This case expanded the clinical phenotype of heterozygous STAT1 GOF patients.
我们报告了一例因STAT1功能获得性突变导致慢性黏膜皮肤念珠菌病（CMC）并伴有复发性肠炎和肠梗阻的病例。一名33岁女性主诉反复口腔糜烂和指（趾）甲损伤超过30年。从口腔黏膜和指甲培养出白色念珠菌。桑格测序显示STAT1存在功能获得性突变（c.A1159G，p.T387A）。37岁起，她出现复发性肠炎和肠梗阻。实验室检查显示外周血淋巴细胞（PBMC）中pSTAT1蛋白表达增加，Th17细胞比例降低，肠道免疫组化显示pSTAT1高表达而IL17A表达稀少。肠梗阻此前尚未作为STAT1功能获得性患者的主要临床表现被报道。我们推测IL17A水平低损害了肠道屏障，这可能导致该患者出现胃肠道疾病。该病例扩展了杂合性STAT1功能获得性患者的临床表型。
