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

页码：277 / 279

页数：3

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