Autoimmune polyendocrine syndrome type 1

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Autoimmune polyendocrine syndrome type 1
Classification and external resources
ICD-10 E31.0
ICD-9 258.1
OMIM 240300
DiseasesDB 29212
eMedicine med/1867
MeSH D016884

Autoimmune polyendocrine syndrome type 1 (APS-1), also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), Whitaker syndrome,[1] or candidiasis-hypoparathyroidism-Addison's disease-syndrome,[2] is a subtype of autoimmune polyendocrine syndrome, in which multiple endocrine glands dysfunction as a result of autoimmunity. It is a genetic disorder attributed to a defect in the AIRE gene that normally confers immune tolerance. It is inherited in a recessive fashion.

Its main features include:[citation needed]

References[edit]

  1. ^ "Polyglandular Autoimmune Syndrome, Type I - eMedicine Endocrinology". Medscape. Retrieved 2009-04-17. 
  2. ^ Greenspan, Francis S.; Gardner, David C. (2004). Basic clinical endocrinology. New York: McGraw-Hill. p. 103. ISBN 0-07-140297-7. 

External links[edit]

  • EurAPS, a EU-funded consortium doing translational research on this condition