Autoimmune polyglandular syndrome type 1 and the autoimmune regulator.
The autoimmune polyglandular syndrome type I (APSI) is an auto-somal recessive disorder that is characterized by chronic mucocutaneous candidiasis, multiple autoimmune endocrinopathies, and ectodermal dystrophies. The gene that is responsible for APSI has been identified as autoimmune regulator (AIRE). More than 50 different mutations have been discovered in patients who have APSI and the defects include nonsense and missense mutations, small insertions and deletions that lead to frameshift, and splice site mutations. The 545-amino acid protein that is encoded by AIRE contains several structural motifs that are suggestive of a transcriptional regulator. We provide an overview of the clinical and genetic features ofAPSI as well as the structure and functions of the AIRE protein.
Ruan
Qing-Guo
QG
Center for Biotechnology and Genomic Medicine, Medical College of Georgia, 1120 15th Street, Augusta, GA 30912-2400, USA.
She
Jin-Xiong
JX
D006801:Humans; D009154:Mutation; D016884:Polyendocrinopathies, Autoimmune / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D014157:Transcription Factors / Q000235:genetics*; D000096927:AIRE Protein
D014157:Transcription Factors; D000096927:AIRE Protein