Polyglandular autoimmune syndromes

Definition

• Syndromes characterized by clusters of autoimmune endocrinopathies
• Also known as autoimmune polyendocrine syndrome (APS)

Classification

PGAS-1 (APECED or Whitaker syndrome)

• Rare, presents in infancy
• Known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) or Whitaker syndrome
• Caused by autosomal recessive mutation of AIRE gene
• Defined as at least two of:
  • Mucocutaneous candidiasis
  • Hypoparathyroidism
  • Addison disease
• Can also include type 1 diabetes mellitus

PGAS-2 (Schmidt syndrome)

• More common, presents in adulthood
• Defined as Addison disease plus one of
  • Autoimmune thyroid disease
  • Type 1 diabetes mellitus
• Often associated with
  • Celiac disease
  • Pernicious anemia
  • Myasthenia gravis
  • Stiff man syndrome
  • Alopecia

IPEX (immune dysfunction and polyglandular endocrinopathy, X-linked)

• Rare, presents in childhood
• Caused by absence or dysfunction of regulatory T cells as a result of FOXP3 mutations