Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO. Issue 4 (1st April 2003)

• Record Type: Journal Article
• Authors: Carrol, E D; Gennery, A R; Flood, T J; Spickett, G P; Abinun, M
• Is Part Of: Archives of disease in childhood. Volume 88:Issue 4(2003)
• Page Start: 340
• Page End: 341
• Publication Date: 2003-04-01
• Subjects: anhidrotic ectodermal dysplasia -- immunodeficiency -- NEMO -- NF-κB; Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/adc.88.4.340
• Languages: English
• ISSNs: 0003-9888

Abstract

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 ( N F-κB) e ssential mo dulator, 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.