Version 1.2 last updated 16 June, 2011 contains 275 public entries |
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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. 
 Our other bioinformatics services: SH2base - Database for pathogenic SH2 domain variations KinMutBase - A registry of disease-causing variations in protein kinase domains IDbases are linked to University of California Santa Cruz (UCSC) genome browser: AIREbase |
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This site is updated by Gerard Schaafsma
© Protein Structure and Bioinformatics, Lund University, 2017
Last modified 17.04.2024