https://doi.org/10.1351/goldbook.12923
Heterogeneous group of rare diseases characterized by autoimmune activity against more than one endocrine organ, although non-endocrine organs can also be affected.
Notes:
- Autoimmune polyendocrine syndrome, type 1 is known as the candidiasis-hypoparathyroidism-Addison 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 disease).
- Autoimmune polyendocrine syndrome, type 2 (also known as Schmidt syndrome) is more heterogeneous, occurs more often and has not been linked to one gene. Features of this syndrome are Addison disease, hypothyroidism (Hashimoto thyroiditis), and diabetes mellitus type 1. Patients are at a higher risk when they carry a particular human leukocyte antigen (HLA) genotype (e.g., DQ2, DQ8, and DRB1*0404).