Hyper-IgE syndrome update

被引：96

作者：

Sowerwine, Kathryn J. ^{[1
]}

Holland, Steven M. ^{[1
]}

Freeman, Alexandra F. ^{[1
]}

机构：

[1] NIAID, Lab Clin Infect Dis, NIH, Bethesda, MD 20892 USA

来源：

YEAR IN HUMAN AND MEDICAL GENETICS: INBORN ERRORS OF IMMUNITY III | 2012年 / 1250卷

关键词：

autosomal dominant hyper-IgE syndrome; Job's syndrome; signal transducer and activator of transcription 3; Th17; cells; HYPERIMMUNOGLOBULIN-E SYNDROME; CHRONIC MUCOCUTANEOUS CANDIDIASIS; RECURRENT INFECTION SYNDROME; CORONARY-ARTERY ANEURYSMS; JOBS-SYNDROME; SIGNAL TRANSDUCER; ATOPIC-DERMATITIS; STAT3; MUTATIONS; CRANIAL SYNOSTOSIS; SYNDROME HIES;

D O I：

10.1111/j.1749-6632.2011.06387.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Autosomal dominant hyper-IgE syndrome (AD-HIES) or Job's syndrome is a primary immunodeficiency with a wide array of clinical features caused by dominant negative mutations in STAT3. In recent years, not only the clinical phenotype of the disease has been expanded with recognition of features such as arterial aneurysms, but also our understanding of the pathogenesis of the disease has greatly improved.

引用

页码：25 / 32

页数：8

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