purine nucleoside phosphorylase deficiency
MeSH: C562587ORPHA: 760
Overview
combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that has material basis in mutation in the PNP gene and characterized mainly by decreased T-cell function
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with purine nucleoside phosphorylase deficiency, sourced from HPO and Orphanet clinical annotations.
Abnormal T cell morphologyDecreased urinary urateAbnormality of the nervous systemAutoimmune hemolytic anemiaRecurrent respiratory infectionsRecurrent infectionsAutoimmunityHypouricemiaSevere combined immunodeficiencyHumoral immunodeficiencyUnusual gastrointestinal infectionAtypical behaviorHyperactivityIntellectual disabilityAtaxiaHypotoniaSpasticityGlobal developmental delayHypertoniaDecreased total lymphocyte countSpastic paraparesisNeoplasmAbnormal central motor functionDecreased total T cell countCerebral palsySensorineural hearing impairmentStrokeAutoimmune thrombocytopeniaSystemic lupus erythematosus
Classification & Codes
MeSH Code
C562587Orphanet Code
ORPHA:760purine nucleoside phosphorylase deficiency
| MeSH | C562587 |
| Orphanet | ORPHA:760 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO