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Autoimmune polyendocrine syndrome type 1

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Autoimmune polyendocrine syndrome type 1

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 inherited in autosomal recessive fashion due to a defect in the AIRE (Auto immune regulator) gene which is located on chromosome 21 and normally confers immune tolerance.

Signs and symptoms

Its main features include:

Genetics

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

References

  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.  
  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.  
Further reading

External links

  • Autoimmune polyglandular syndrome, type 1 on Genetics Home Reference
  • EurAPS, a EU-funded consortium doing translational research on this condition
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