一名沙特患者因转录信号转导子和激活子 1 基因突变引发的慢性皮肤粘膜念珠菌病：病例报告

IF 4.7 Q2 MATERIALS SCIENCE, BIOMATERIALS ACS Applied Bio Materials Pub Date : 2024-07-03 DOI:10.4081/dr.2024.9939

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。

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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.

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来源期刊

ACS Applied Bio Materials Chemistry-Chemistry (all)

CiteScore

9.40

自引率

2.10%

发文量

464

期刊介绍： ACS Applied Bio Materials is an interdisciplinary journal publishing original research covering all aspects of biomaterials and biointerfaces including and beyond the traditional biosensing, biomedical and therapeutic applications. The journal is devoted to reports of new and original experimental and theoretical research of an applied nature that integrates knowledge in the areas of materials, engineering, physics, bioscience, and chemistry into important bio applications. The journal is specifically interested in work that addresses the relationship between structure and function and assesses the stability and degradation of materials under relevant environmental and biological conditions.