NFKBIAbase: Autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency

Version 1.0 last updated 16 June, 2011 contains 2 public entries


Curated:	Mauno Vihinen
Maintained by:	Jouni Väliaho
About database:	How to cite
	Copyright notice
	Database policy
	Liability statement
	Recommendations and standards followed

Short description of the NFKBIAbase :

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by mutations in NEMO/IKKgamma, the regulatory subunit of the IkB kinase complex. Autosomal-dominant form of EDA-ID is associated with a mutation in NFKBIA. The disease is characterised by severe bacterial infections and a severe and unique T -cell deficiency. There is a marked lymphocytosis, no detectable memory T cells in vivo, and naive T cells do not respond to CD3-TCR activation in vitro.

Other IBT bioinformatics services:
Immunodeficiency Resource (IDR)
Immunodeficiency Mutation Databases (MUTbase)
IDdiagnostics
Immunome Knowledge Base (IKB) - An integrated service for immunome research
SH2base - Database for pathogenic SH2 domain mutations

IDbases are linked to University of California Santa Cruz (UCSC) genome browser: NFKBIAbase