Partial Purine Nucleoside Phosphorylase Deficiency: an Unexpected Diagnosis in an Adult Patient
Abstract
Purine Nucleoside Phosphorylase (PNP) is a ubiquitous enzyme found in the purine degradation and salvage pathways. It metabolises inosine and deoxyinosine into hypoxanthine, and guanosine and deoxyguanosine into guanine. PNP deficiency leads to accumulation of deoxyguanosine triphosphate (dGTP) which inhibits DNA synthesis and repair in affected cells. This enhances apoptosis in rapidly replicating or those exposed to oxidative stress, typically resulting in immunotoxicity and lymphopaenia.
Fields of Study & Subjects
Biochemical and Molecular Research
Glycogen Storage Diseases and Myoclonus
Blood disorders and treatments
Publication details
- Journal / source
- Journal of Clinical Immunology
- Publisher
- Springer Science and Business Media LLC
- Volume
- 46
- Issue
- 1
- Pages
- 14–14
- Publication date
- 2 February 2026
- Language
- EN