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一名沙特患者因信号转导及转录激活因子1突变导致的慢性黏膜皮肤念珠菌病:病例报告

Chronic mucocutaneous candidiasis due to signal transducer and activator of transcription 1 mutation in a Saudi patient: a case report.

作者信息

Alakeel Abdullah, Nagshabandi Khalid Nabil, Alsalhi Abdulaziz

机构信息

Department of Dermatology, College of Medicine, King Saud University and King Saud University Medical City, Riyadh, Saudi Arabia.

出版信息

Dermatol Reports. 2024 Jul 3;16(4):9939. doi: 10.4081/dr.2024.9939. eCollection 2024 Nov 21.

Abstract

Chronic mucocutaneous candidiasis (CMC) is a primary immunodeficiency condition caused by a genetic abnormality that increases the risk of recurrent and persistent skin, nail, and mucous membrane infections with Candida species, typically . Signal transducer and activator of transcription 1 (STAT1) gene mutation is a genetic trigger that causes CMC, which increases the risk of infections, multisystem disorders, and cancer susceptibility. We describe the first case of a Saudi female patient with clinical features of CMC with an underlying (STAT1) gene mutation.

摘要

慢性黏膜皮肤念珠菌病(CMC)是一种原发性免疫缺陷疾病,由基因异常引起,该异常增加了皮肤、指甲和黏膜反复持续感染念珠菌属的风险,通常如此。信号转导和转录激活因子1(STAT1)基因突变是导致CMC的遗传诱因,它会增加感染、多系统疾病和癌症易感性的风险。我们描述了首例具有CMC临床特征且存在潜在(STAT1)基因突变的沙特女性患者。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7ed1/11647450/6fa4ddd957ba/dr-16-4-9939-g001.jpg

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