Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO

被引：39

作者：

Carrol, ED ^{[1
]}

Gennery, AR ^{[1
]}

Flood, TJ ^{[1
]}

Spickett, GP ^{[1
]}

Abinun, M ^{[1
]}

机构：

[1] Newcastle Upon Tyne Hosp NHS Trust, Dept Paediat Immunol, Newcastle Upon Tyne NE4 6BE, Tyne & Wear, England

来源：

ARCHIVES OF DISEASE IN CHILDHOOD | 2003年 / 88卷 / 04期

关键词：

D O I：

10.1136/adc.88.4.340

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Anhidrotic (hypohidrotic) ectodermal dysplasia associated with immunodeficiency (EDA-ID; OMIM 300291) is a newly recognised primary immunodeficiency caused by mutations in NEMO, the gene encoding nuclear factor kappaB (NF-kappaB) essential modulator, NEMO, or inhibitor of kappaB kinase (IKK-gamma). This protein is essential for activation of the transcription factor NF-kappaB, which plays an important role in human development, skin homoeostasis, and immunity.

引用

页码：340 / 341

页数：2

共 7 条

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