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

Version 1.2 last updated 21 August, 2008 contains 213 public entries


Curated:	Mauno Vihinen
Maintained by:	Jouni Väliaho
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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 IMT 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