Autosomal Dominant Cases of Chronic Mucocutaneous Candidiasis Segregates with Mutations of Signal Transducer and Activator of Transcription 1, But Not of Toll-Like Receptor 3
Autosomal Dominant Cases of Chronic Mucocutaneous Candidiasis Segregates with Mutations of Signal Transducer and Activator of Transcription 1, But Not of Toll-Like Receptor 3
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DOI：
10.1016/j.jpeds.2013.02.040
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发表时间：
2013-07-01
影响因子：
5.1
通讯作者：
Ben-Shoshan, Moshe
中科院分区：
文献类型：
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作者：
Al Rushood, Maysoun;McCusker, Christine;Ben-Shoshan, Moshe
我们报告了一个常染色体显性遗传的慢性皮肤粘膜念珠菌病以及复发性病毒感染的家庭，分离与一个新的信号转导和转录激活因子1（STAT1）突变。已开始用氟康唑和免疫球蛋白替代进行预防性治疗，临床反应良好。
We report a family with autosomal dominant chronic mucocutaneous candidiasis as well as recurrent viral infections that segregate with a novel signal transducer and activator of transcription 1 (STAT1) mutation. Prophylactic treatment with fluconazole and immunoglobulin replacement has been initiated, with good clinical response.