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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:0002313 | Spastic paraparesis |
| HP:0001257 | Spasticity |
| HP:0005363 | Humoral immunodeficiency |
| HP:0000752 | Hyperactivity |
| HP:0002843 | Abnormal T cell morphology |
| HP:0001888 | Lymphopenia |
| HP:0000707 | Abnormality of the nervous system |
| HP:0001973 | Autoimmune thrombocytopenia |
| HP:0003537 | Hypouricemia |
| HP:0001251 | Ataxia |
