AIREbase: Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED)

Version 1.2 last updated 16 June, 2011 contains 275 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 AIREbase :

APECED is due to a monogenic mutation of AIRE (autoimmune regulator) which codes for a transcription factor. Its pathophysiological substrate is related to an anomaly of normal immunological tolerogenesis leading to the formation of autoantibodies directed against specific tissue antigens: surface receptors, intracellular enzymes, secreted proteins (hormones). APECED usually occurs in children before the age of 5, or in early adolescence.

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: AIREbase