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purine nucleoside phosphorylase deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

purine nucleoside phosphorylase deficiency

MONDO:0013171

Also known as:PNP deficiencyPNPase deficiencydeficiency of inosine phosphorylase

Find Clinical TrialsTrials

Overview

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.

GeneticsAutosomal recessive · PNP (chr 14)

Clinical Trials2 registered · 2 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Decreased urinary urate, Ataxia, Pure red cell aplasia, and Decreased total lymphocyte count and others. 38 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	12	Recurrent lower respiratory tract infections, Autoimmune hemolytic anemia, Recurrent opportunistic infections

Genetic Landscape

PNP function has not been fully characterized.

Purine nucleoside phosphorylase deficiency is caused by mutations in the PNP gene on chromosome 14.

Diagnosis

Genetic testing for PNP is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for purine nucleoside phosphorylase deficiency has been reported in the published literature.

Prognosis

Phenotype severity distribution: 9 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

2 clinical trials registered, 2 recruiting. Interventions under study include other interventions and biologic therapy. Research is primarily sponsored by academic and government institutions.

27 publications have been identified in PubMed for purine nucleoside phosphorylase deficiency. Research spans Basic Science / Preclinical (37%), Review / Meta-Analysis (15%), and Case Report / Case Series (11%).

Research Type	Count	% of Total
Laboratory research	10

Data assembled from 8 of 12 sources · Last updated Sep 19, 2026, 6:56 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613179

Orphanet

European rare disease database

Orphanet:760

GARD

Genetic and Rare Diseases Info Center

GARD:4606

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 2 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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purine nucleoside phosphorylase deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

purine nucleoside phosphorylase deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications