Population genetics and functions of the autoimmune regulator (AIRE)

Pradeep G. Kumar, Malini Laloraya, Jin Xiong She

Research output: Contribution to journalReview articlepeer-review

31 Scopus citations


The autoimmune polyglandular syndrome type 1 (APS1), also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APS1), is a monogenic autosomal disease with recessive inheritance. It is characterized by chronic mucocutaneous candidiasis, multiple autoimmune endocrinopathies, and ectodermal dystrophies. The defective gene responsible for this disease has been identified and named "autoimmune regulator" (AIRE). The AIRE gene is located on chromosome 21q22.3. At least 45 different disease-causing mutations in AIRE have been discovered. This review summarizes the global distribution of AIRE mutations and the relevance of major mutations to the clinical disorders associated with APS1. We also will review studies on the structure and DNA-binding ability of the AIRE protein and the possible malfunctions of the AIRE protein as a result of major disease-causing mutations.

Original languageEnglish (US)
Pages (from-to)321-338
Number of pages18
JournalEndocrinology and Metabolism Clinics of North America
Issue number2
StatePublished - Jul 4 2002
Externally publishedYes

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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