Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO
- 1Department of Paediatric Immunology, Newcastle upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, UK
- 2Regional Immunology Department, Newcastle upon Tyne Hospitals NHS Trust
- Correspondence to:
Dr M Abinun, Department of Paediatric Immunology, Newcastle upon Tyne Hospitals NHS Trust, Newcastle upon Tyne NE4 6BE, UK;
mario.abinun{at}ncl.ac.uk
- Accepted 10 October 2002
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 κB (NF-κB) essential modulator, NEMO, or inhibitor of κB kinase (IKK-γ). This protein is essential for activation of the transcription factor NF-κB, which plays an important role in human development, skin homoeostasis, and immunity.
