Autoimmune polyendocrine syndrome type 1
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Autoimmune polyendocrine syndrome type 1 | |
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Classification and external resources | |
Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
ICD-10 | E31.0 |
ICD-9-CM | 258.1 |
OMIM | 240300 |
DiseasesDB | 29212 |
eMedicine | med/1867 |
Patient UK | Autoimmune polyendocrine syndrome type 1 |
MeSH | D016884 |
Autoimmune polyendocrine syndrome type 1 (APS-1), also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), autoimmune polyglandular syndrome, 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
Further reading
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External links
- Autoimmune polyglandular syndrome, type 1 on Genetics Home Reference
- EurAPS, a EU-funded consortium doing translational research on this condition
- ↑ Basic Pathology - Robbins et al - 9th edition