Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
ORPHA:37042· ICD-10 E31.0
Definition
A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.
- Prevalence
- <1 / 1 000 000
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal