Autoimmune polyendocrine syndrome type 1
|Autoimmune polyendocrine syndrome type 1|
|Classification and external resources|
Autoimmune polyendocrine syndrome type 1 (APS-1), also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), Whitaker syndrome, or candidiasis-hypoparathyroidism-Addison's disease-syndrome, 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:
- A mild immune deficiency, leading to persistent mucosal and cutaneous infections with candida yeasts. There is also decreased function of the spleen (hyposplenism).
- Autoimmune dysfunction of the parathyroid gland (leading to hypocalcaemia) and the adrenal gland (Addison's disease: hypoglycemia, hypotension and severe reactions in disease).
- Other disease associations are:
- "Polyglandular Autoimmune Syndrome, Type I - eMedicine Endocrinology". Medscape. Retrieved 2009-04-17.
- Greenspan, Francis S.; Gardner, David C. (2004). Basic clinical endocrinology. New York: McGraw-Hill. p. 103. ISBN 0-07-140297-7.
- EurAPS, a EU-funded consortium doing translational research on this condition