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]
- A mild immune deficiency, leading to persistent mucosal and cutaneous infections with candida yeasts. There is also decreased function of the spleen (asplenism).
- 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:
- hypothyroidism
- hypogonadism and infertility
- vitiligo (depigmentation of the skin)
- alopecia (baldness)
- malabsorption
- pernicious anemia
- chronic active (autoimmune) hepatitis
References [edit]
- ^ "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.
External links [edit]
- EurAPS, a EU-funded consortium doing translational research on this condition
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