IPEX syndrome (Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked)

• Definition: A syndrome characterized by a dysfunctional regulatory T-cell lineage that leads to autoimmunity as a result of disrupted tolerance to self-antigens.
• Etiology
  • X-linked recessive type of inheritance
  • Mutation in transcription factor FOXP3 → unchecked activation of T cells against host tissues
    • FOXP3 is a transcription factor expressed in regulatory T cells that is required for their proper development and function.