Autoimmune polyglandular syndrome type 1 and the autoimmune regulator

The autoimmune polyglandular syndrome type 1 (APS1) is an autosomal recessive disorder that is characterized by chronic mucocutaneous candidiasis, multiple autoimmune endocrinopathies, and ectodermal dystrophies. The gene that is responsible for APS1 has been identified as autoimmune regulator (AIRE). More than 50 different mutations have been discovered in patients who have APS1 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 of APS1 as well as the structure and functions of the AIRE protein.