Format

Send to

Choose Destination
See comment in PubMed Commons below
Clin Lab Med. 2004 Mar;24(1):305-17.

Autoimmune polyglandular syndrome type 1 and the autoimmune regulator.

Author information

1
Center for Biotechnology and Genomic Medicine, Medical College of Georgia, 1120 15th Street, Augusta, GA 30912-2400, USA.

Abstract

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.

PMID:
15157567
DOI:
10.1016/j.cll.2004.01.008
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Support Center