Abstract
Autoimmune polyendocrinopathies denote syndromes characterized by immune-mediated destruction of two or more endocrine glands. Often many nonendocrine organs and tissues are also affected. They can be broadly divided into the ultrarare monogenic autoimmune polyendocrine syndrome (APS) type 1 (APS-1) and the common APS type 2 (APS-2) with complex inheritance. The former is caused by mutations in the Autoimmune Regulator gene, and the latter is associated with certain major histocompatibility complex genotypes and variants in a range of other genes, most of which are involved in the adaptive and innate immune system. In both conditions, numerous autoantibodies can be detected, which correlate with clinical components, and can be utilized for diagnosis and prognosis.
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