autoimmune polyglandular syndrome type 1
Friday 16 November 2007
Autoimmune polyglandular syndrome type 1 (APS1) ou APECED is characterized by the presence of 2 of 3 major clinical symptoms: Addison disease, and/or hypoparathyroidism, and/or chronic mucocutaneous candidiasis. APS1 is caused by mutation in the autoimmune regulator gene (AIRE) (MIM.607358).
germline mutations of the AIRE gene (MIM.607358)
Oliva-Hemker M, Berkenblit GV, Anhalt GJ, Yardley JH.Pernicious anemia and widespread absence of gastrointestinal endocrine cells in a patient with autoimmune polyglandular syndrome type I and malabsorption.J Clin Endocrinol Metab. 2006 Aug;91(8):2833-8. PMID: 16684833