Purine Nucleoside Phosphorylase Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** A rare autosomal recessive immunodeficiency caused by mutation(s) in the PNP gene, encoding purine nucleoside phosphorylase. It is characterized by recurrent infections resulting from severe T-cell dysfunction.

**Synonyms:** - PNP Deficiency - PNP Deficiency - PNPD - Purine-Nucleoside Phosphorylase Deficiency