autoimmune destruction of multiple endocrine glands

APS1:

typical childhood

• 4 classical features;
  • Candidiasis – Anti IL-17
  • Hypoparathyroidism (hypocalcemia, hyperphosphatemia and low PTH)
  • Addison disease (low cortisol)
  • Ectodermal dystrophy.

APS2:

• Early adult
• adrenal insufficiency (Addison's) with autoimmune thyroiditis and DM1

APS3 common

• DM1 + autoimmune thyroiditis

<aside> 💡 Inactivating mutations in the autoimmune regulator gene (AIRE) on 21q

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