Purine nucleoside phosphorylase deficiency
ORPHA:760· ICD-10 D81.5
Definition
A rare immune disease characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood, Infancy