Autoimmune polyendocrine syndrome type 1

Autoimmune polyendocrine syndrome type 1
Classification and external resources
Specialty
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, 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 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:

• 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.

External links

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