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purine nucleoside phosphorylase deficiency
Summary
- Synonym
-
- PNP deficiency
- Purine-Nucleoside Phosphorylase deficiency
- deficiency of inosine phosphorylase
- Definition
- A 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.
- Super Class
- autosomal recessive disease combined T cell and B cell immunodeficiency
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P00491 | Purine nucleoside phosphorylase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002273 | Tetraparesis |
| HP:0004429 | Recurrent viral infections |
| HP:0001508 | Failure to thrive |
| HP:0005435 | Impaired T cell function |
| HP:0001904 | Neutropenia in presence of anti-neutropil antibodies |
| HP:0001264 | Spastic diplegia |
| HP:0002783 | Recurrent lower respiratory tract infections |
| HP:0012410 | Pure red cell aplasia |
| HP:0005372 | Abnormality of B cell physiology |
| HP:0002718 | Recurrent bacterial infections |
