Purine nucleoside phosphorylase deficiency
Purine nucleoside phosphorylase deficiency
Definition
Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.
Also known as immunodeficiency due to purine nucleoside phosphorylase deficiency, PNP deficiency, PNPase deficiency, purine nucleoside phosphorylase deficiency, purine-nucleoside phosphorylase deficiency — per MONDO