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

被引：19
|
作者：
Al Rushood, Maysoun [1 ]
McCusker, Christine [1 ]
Mazer, Bruce [1 ]
Alizadehfar, Reza [1 ]
Grimbacher, Bodo [2 ,3 ]
Depner, Mark [2 ,3 ]
Ben-Shoshan, Moshe [1 ]
机构：
[1] McGill Univ, Dept Pediat, Ctr Hlth, Div Pediat Allergy & Clin Immunol, Montreal, PQ H3H 1P3, Canada
[2] Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Freiburg, Germany
[3] Univ Freiburg, Fac Biol, D-79106 Freiburg, Germany
来源：
JOURNAL OF PEDIATRICS | 2013年 / 163卷 / 01期
关键词：
HYPER-IGE SYNDROME; STAT1; VIRUS; SUSCEPTIBILITY; INTERFERON; PROTECTION; INFECTION; HERPES;
D O I：
10.1016/j.jpeds.2013.02.040
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
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.
引用
收藏
页码：277 / 279
页数：3
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