Autoimmune Endocrine Disorders

Autoimmune endocrine disorders coexist in recognized syndromes known as autoimmune polyendocrine syndromes (APS). Autosomal recessively inherited mutations in the AIRE gene cause APS-1, also known as autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy (APECED). This rare disorder is associated with the triad of mucocutaneous candidiasis, hypoparathyroidism, and primary adrenal insufficiency. The much more common APS-2 is inherited in a multigenic pattern and tends to present later in life. Recognized associations of APS-2 include type 1 diabetes, autoimmune thyroid disease, autoimmune adrenal insufficiency, and celiac disease, among others. Immunodysregulation polyendocrinopathy enteropathy X-linked (IPEX) is a rare autoimmune syndrome associated with mutations in the FOXp3 gene.