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 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
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:[citation needed]
- 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:
- hypothyroidism
- hypogonadism and infertility
- vitiligo (depigmentation of the skin)
- alopecia (baldness)
- malabsorption
- pernicious anemia
- chronic active (autoimmune) hepatitis
Genetics
It is caused in autosomal recessive manner due to a defect in AIRE gene mapped to 21q22.3.[3]
References
- ↑ "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.
- ↑ 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. PMID 12843157.
- Further reading
- 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. PMID 12843157.
- Peterson, P; Pitakanen, J; Sillanpaa, N; Krohn, K (2004). "Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a model disease to study molecular aspects of endocrine autoimmunity". Clinical and Experimental Immunology. 135 (3): 348–357. doi:10.1111/j.1365-2249.2004.02384.x. PMC 1808970. PMID 15008965.
- Capalbo, Donatella; De Martino, Lucia; Giardino, Giuliana; Di Mase, Raffaella; Di Donato, Iolanda; Parenti, Giancarlo; Vajro, Pietro; Pignata, Claudio; Salerno, Mariacarolina (2012). "Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: Insights into Genotype-Phenotype Correlation". International Journal of Endocrinology. 2012: 1–9. doi:10.1155/2012/353250.
External links
- Autoimmune polyglandular syndrome, type 1 on Genetics Home Reference
- EurAPS, a EU-funded consortium doing translational research on this condition