- Acronym Breakdown
- Immune dysregulation
- Polyendocrinopathy
- Enteropathy
- X-linked
- Epidemiology & Genetics
- Inheritance: X-linked recessive
- Demographics: Affects male infants exclusively.
- Pathophysiology
- Mutation in the FOXP3 gene. t
- Result: Defective development and function of Regulatory T cells (Tregs) (CD4+, CD25+, FOXP3+).
- Consequence: Unchecked T-cell activation leading to severe autoimmunity.
- Clinical Features (Classic Triad)
- 1. Enteropathy
- Severe, chronic, watery diarrhea.
- Often the presenting symptom in infancy.
- Leads to failure to thrive (FTT) and malabsorption.
- 2. Dermatitis
- Severe eczema (atopic dermatitis).
- Psoriasiform or exfoliative dermatitis.
- 3. Polyendocrinopathy
- Type 1 Diabetes Mellitus (often presents as neonatal diabetes).
- Autoimmune thyroiditis (hypothyroidism).
- Associated Findings
- Autoimmune cytopenias (Coombs+ hemolytic anemia, thrombocytopenia).
- Recurrent infections.
- Treatment
- Supportive: TPN for enteropathy, insulin for diabetes.
- Immunosuppression: Steroids, calcineurin inhibitors (tacrolimus/cyclosporine).
- Curative: Hematopoietic Stem Cell Transplantation (HSCT).