It is mutated in the rare autoimmune syndrome Autoimmune Polyendocrinopathy Syndrome type 1 (APS-1), also known as Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED). Disruption of AIRE results in the development of a range of autoimmune diseases, the most common clinical conditions in the syndrome are hypoparathyroidism, primary adrenocortical failure and chronic mucocutaneous candidiasis. AIRE is expressed primarily in the thymus.
Research on the knockout mouse has demonstrated that Aire functions through initiating the transcription of a diverse set of self-antigens, such as insulin, in the thymus. This expression then allows maturing thymocytes to become tolerant towards peripheral organs, thereby suppressing autoimmune disease.
New autoimmune polyendocrinopathy study findings have been reported by scientists at Thomas Jefferson University, Eye Institute.(Clinical report)
Mar 31, 2010; Research findings, 'The Boston keratoprosthesis in 2 patients with autoimmune polyendocrinopathy-candidiasis-ectodermal...
Recent findings from University of Kansas, Medical Department highlight research in autoimmune polyendocrinopathy.
Oct 15, 2008; According to recent research from the United States, "Severe hyponatremia, defined by a sodium concentration of below 115 meq/l,...