APECED: Autoimmune Polyendocrinopathy, Candidiasis and Ectodermal Dystrophy Syndrome

  • Etiologia
    • Mutação no gene AIRE (chromosome 21)
    • Autossómico recessivo
    • Defect in T-cell selection → autoimmunity (due to loss of self-tolerance)
  • Association
    • Autoimmune Polyendocrinopathy (type 1)
        • Autoimmune Polyendocrinopathies
      • Hipotiroidismo
      • Hypoparathyroidism, Adisson
      • Gonadal insuficiency
      • Insulin dependent diabetes
      • Other autoimmune disorders
        • Digestive disorders with malabsorption
        • Atrophic gastritis
        • Chronic hepatitis
    • Chronic mucocutaneous candidiasis
      • Due to autoantibodies against IL-17 and IL-22
      • Occurs with an inheritance pattern
    • Ectodermal Dystrophy Syndrome (autoimmune destruction of ectodermal tissues)
      • Extensive vitiligo
      • Alopecia areata
      • Dental enamel hypoplasia
      • Nail dystrophy
      • Keratitis
  • Timoma?? Não verifiquei estar associado
  • Labs
    • Anti-interferon antibodies
      • Hiposideremia