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.[1]References
- Autoimmune polyglandular syndrome type 1 and the autoimmune regulator. Ruan, Q.G., She, J.X. Clin. Lab. Med. (2004) [Pubmed]
Annotations and hyperlinks in this abstract are from individual authors of WikiGenes or automatically generated by the WikiGenes Data Mining Engine. The abstract is from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.About WikiGenesOpen Access LicencePrivacy PolicyTerms of Useapsburg
