ePrints

Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO

Lookup NU author(s): Professor Andrew GenneryORCiD, Dr Terence Flood, Dr Gavin Spickett, Dr Mario Abinun

Downloads

Full text for this publication is not currently held within this repository. Alternative links are provided below where available.

Abstract

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.

Publication metadata

Author(s): Carrol ED, Gennery AR, Flood TJ, Spickett GP, Abinun M

Publication type: Article

Publication status: Published

Journal: Archives of Disease in Childhood

Year: 2003

Volume: 88

Issue: 4

Pages: 340-341

ISSN (print): 0003-9888

ISSN (electronic): 1468-2044

Publisher: BMJ Group

URL: http://dx.doi.org/10.1136/adc.88.4.340

DOI: 10.1136/adc.88.4.340

Altmetrics

Share