Autoimmune Polyendocrine Syndrome - The Syndromes

The Syndromes

• Autoimmune polyendocrine syndrome type 1 (APECED or Whitaker's syndrome)
• Autoimmune polyendocrine syndrome type 2 (Schmidt's syndrome)
• The most serious but rarest form is the X-linked polyendocrinopathy, immunodeficiency and diarrhea-syndrome, also called XLAAD (X-linked autoimmunity and allergic dysregulation) or IPEX (immune dysfunction, polyendocrinopathy, and enteropathy, X-linked). This is due to mutation of the FOXP3 gene on the X chromosome. Most patients develop diabetes and diarrhea as neonates and many die due to autoimmune activity against many organs. Boys are affected, while girls are carriers and might suffer mild disease.