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In medicine, autoimmune polyendocrine syndromes are a heterogeneous group
of rare diseases characterised by autoimmune activity against more than
one endocrine organs, although non-endocrine organs can be affected.
Autoimmune polyendocrine syndrome, type 1 is also known as the candidiasis-hypoparathyroidism-Addison's disease-syndrome after its main features:
- 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 hypocalcemia) and the adrenal gland (Addison's disease: hypoglycemia, hypotension and severe reactions in disease).
- Other disease associations are:
- hypothyroidism
- hypogonadism and infertility
- diabetes mellitus (type 1)
- vitiligo (depigmentation of the skin)
- alopecia (baldness)
- malabsorption
- pernicious anemia
- chronic active (autoimmune) hepatitis
As opposed to type 2, this syndrome inherits in an autosomal recessive fashion and is due to a defect in AIRE ("autoimmune regulator"), a gene located on the 21st chromosome. Normal function of AIRE, a transcription factor, appears to be to confer immune tolerance for antigens from endocrine organs.