慢性黏液皮肤念珠菌病患者因STAT1功能获得突变引起的反复肠炎和肠梗阻

IF 3.6 3区生物学 Q2 MYCOLOGY

Mycopathologia Pub Date : 2024-12-20 DOI:10.1007/s11046-024-00912-8

Mingfen Luo, Huan Huang, Hanhui Nie, Yinghui Liu, Yangxia Chen, Fuying Zheng, Liyan Xi, Hongfang Liu

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引用次数: 0

摘要

我们报告了一例因STAT1 GOF突变引起的慢性粘膜皮肤念珠菌病（CMC），并伴有复发性肠炎和肠梗阻。一名33岁女性自诉口腔糜烂及指（趾）甲损伤30多年。从口腔黏膜和指甲中培养白色念珠菌。Sanger测序显示STAT1的功能获得突变（c.A1159 G, p.T387A）。自37岁起，她复发性肠炎和肠梗阻。实验室检查显示pSTAT1蛋白表达升高，外周血淋巴细胞（PBMC）中Th17细胞比例下降，肠道免疫组化中pSTAT1高表达，IL17A表达稀少。在STAT1型GOF患者中，肠梗阻尚未被报道为主要临床表现。我们推测低水平的IL17A破坏了肠道屏障，这可能导致该患者的胃肠道疾病。本病例扩大了杂合STAT1型GOF患者的临床表型。

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Recurrent Enteritis and Intestinal Obstruction in a Patient with Chronic Mucocutaneous Candidiasis due to STAT1 Gain-of-Function Mutation.

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.

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来源期刊

Mycopathologia 生物-真菌学

CiteScore

6.80

自引率

3.60%

发文量

审稿时长

3 months

期刊介绍： Mycopathologia is an official journal of the International Union of Microbiological Societies (IUMS). Mycopathologia was founded in 1938 with the mission to ‘diffuse the understanding of fungal diseases in man and animals among mycologists’. Many of the milestones discoveries in the field of medical mycology have been communicated through the pages of this journal. Mycopathologia covers a diverse, interdisciplinary range of topics that is unique in breadth and depth. The journal publishes peer-reviewed, original articles highlighting important developments concerning medically important fungi and fungal diseases. The journal highlights important developments in fungal systematics and taxonomy, laboratory diagnosis of fungal infections, antifungal drugs, clinical presentation and treatment, and epidemiology of fungal diseases globally. Timely opinion articles, mini-reviews, and other communications are usually invited at the discretion of the editorial board. Unique case reports highlighting unprecedented progress in the diagnosis and treatment of fungal infections, are published in every issue of the journal. MycopathologiaIMAGE is another regular feature for a brief clinical report of potential interest to a mixed audience of physicians and laboratory scientists. MycopathologiaGENOME is designed for the rapid publication of new genomes of human and animal pathogenic fungi using a checklist-based, standardized format.