Abdullah Alakeel, Khalid Nabil Nagshabandi, Abdulaziz Alsalhi
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引用次数: 0
摘要
慢性皮肤粘膜念珠菌病(CMC)是一种原发性免疫缺陷病,由基因异常引起,会增加皮肤、指甲和粘膜反复持续感染念珠菌(通常是白色念珠菌)的风险。信号转导和激活转录 1(STAT 1)基因突变是导致 CMC 的遗传诱因,会增加感染、多系统疾病和癌症易感性的风险。我们描述了第一例具有 CMC 临床特征并伴有 STAT 1 基因突变的沙特籍女性患者。
Chronic mucocutaneous candidiasis due to signal transducer and activator of transcription 1 mutation in a Saudi patient: a case report
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 Candida albicans. Signal transducer and activator of transcription 1 (STAT 1) 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 (STAT 1) gene mutation.