purine nucleoside phosphorylase deficiency
Findings
No curated finding names purine nucleoside phosphorylase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0013171), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
37 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AtaxiaHPOHP:0001251
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Decreased mitogen-induced T-cell proliferationHPOHP:0031381
- 1 of 1 reported patient
- Decreased total lymphocyte countHPOHP:0001888
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Decreased urinary urateHPOHP:0011935
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Delayed gross motor developmentHPOHP:0002194
- 1 of 1 reported patient
- Elevated urinary guanosine levelHPOHP:0040424
- 1 of 1 reported patient
Show the remaining 25
- AutoimmunityHPOHP:0002960
- Frequent (30% to 79% of cases)
- Humoral immunodeficiencyHPOHP:0005363
- Frequent (30% to 79% of cases)
- Recurrent infectionsHPOHP:0002719
- Frequent (30% to 79% of cases)
- Recurrent respiratory infectionsHPOHP:0002205
- Frequent (30% to 79% of cases)
- Severe combined immunodeficiencyHPOHP:0004430
- Frequent (30% to 79% of cases)
- Unusual gastrointestinal infectionHPOHP:0032166
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PNPHGNC:7892
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: purine nucleoside phosphorylase deficiency
- Also called
- immunodeficiency due to purine nucleoside phosphorylase deficiencyPNP deficiencyPNPase deficiencypurine-nucleoside phosphorylase deficiency