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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, also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy or Whitaker syndrome,[1] is a form of autoimmune polyendocrine syndrome.

Autoimmune polyendocrine syndrome, type 1 is also known as candidiasis-hypoparathyroidism-Addison's disease-syndrome, Autoimmune Polyglandular Syndrome I,[2] APECED, or APS-I. Its main features include:

As opposed to type 2, this syndrome inherits in an autosomal recessive fashion and is due to a defect in AIRE ("autoimmune regulator"),[3] a gene located on the 21st chromosome. Normal function of AIRE, a transcription factor, appears to be to confer immune tolerance for antigens from endocrine organs.

References

  1. ^ "Polyglandular Autoimmune Syndrome, Type I - eMedicine Endocrinology". Medscape. http://emedicine.medscape.com/article/124183-overview. Retrieved 2009-04-17.  
  2. ^ Greenspan, Francis S.; Gardner, David C. (2004). Basic clinical endocrinology. New York: McGraw-Hill. pp. 103. ISBN 0-07-140297-7.  
  3. ^ Bensing S, Fetissov SO, Mulder J, et al (January 2007). "Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1". Proc. Natl. Acad. Sci. U.S.A. 104 (3): 949–54. doi:10.1073/pnas.0610070104. PMID 17215373.  

External links

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