Autoimmune polyendocrine syndrome type 1

Autoimmune polyendocrine syndrome type 1
Classification and external resources
Specialty endocrinology
ICD-10 E31.0
ICD-9-CM 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/dysplasia (APECED), autoimmune polyglandular syndrome type 1, Whitaker syndrome,[1] or candidiasis-hypoparathyroidismAddison's disease syndrome,[2] is a subtype of autoimmune polyendocrine syndrome (autoimmune polyglandular syndrome) in which multiple endocrine glands dysfunction as a result of autoimmunity. It is a genetic disorder inherited in autosomal recessive fashion due to a defect in the AIRE gene (autoimmune regulator), which is located on chromosome 21 and normally confers immune tolerance.

Signs and symptoms

Its main features include:


It is caused in autosomal recessive manner due to a defect in AIRE gene mapped to 21q22.3.[3]


  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.
  3. Buzi, F; Badolato, R; Mazza, C; Giliani, S; Notarangelo, LD; Radetti, G; Plebani, A; Notarangelo, LD (Jul 2003). "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome: time to review diagnostic criteria?". The Journal of Clinical Endocrinology and Metabolism. 88 (7): 3146–8. doi:10.1210/jc.2002-021495. PMID 12843157.

Further reading

External links

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