II. Epidemiology
- Onset in male infants (X-Linked)
- Prevalence: 1 in 1,000,000
III. Pathophysiology
- Associated with FOXP3 Gene (X-Linked)
IV. Diagnosis
- Major Conditions for diagnosis
- Autoimmune Enteropathy
- Neonatal Type I Diabetes Mellitus
- Eczema
- Associated Endocrine Conditions
- Autoimmune Thyroid disease
- Hemolytic Anemia
- Thrombocytopenia
V. Labs
- GAD65 Autoantibody positive
- Complete Blood Count with Differential
- Other findings
- Increased IgE levels
- Cytokine overproduction
VI. Complications
- Infectious Disease