Autoimmune polyendocrinopathy syndrome type 1

Definition:

Autoimmune polyendocrine syndrome type 1 (APS1) is a multiorgan autoimmune disorder caused by mutations in AIRE, the autoimmune regulator gene. It is characterized by multiple autoimmune endocrinopathies, chronic mucocutaneous candidiasis, and ectodermal dystrophies. APS1 has been reported to be inherited in an autosomal recessive manner. However, a novel mutation was recently described to be inherited in a dominant fashion.

References:

[1]. Mohammad Alimohammadi, et al. Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. N Engl J Med. 2008 Mar 6;358(10):1018-28. [Content Brief]

[2]. P Björses, et al. Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. Am J Hum Genet. 2000 Feb;66(2):378-92. [Content Brief]

[3]. Tanja Ilmarinen, et al. Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation. Hum Mutat. 2005 Oct;26(4):322-31. [Content Brief]

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