Alakeel Abdullah, Nagshabandi Khalid Nabil, Alsalhi Abdulaziz
Department of Dermatology, College of Medicine, King Saud University and King Saud University Medical City, Riyadh, Saudi Arabia.
Dermatol Reports. 2024 Jul 3;16(4):9939. doi: 10.4081/dr.2024.9939. eCollection 2024 Nov 21.
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.
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。