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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:0100021 | Cerebral palsy |
| HP:0002205 | Recurrent respiratory infections |
| HP:0001252 | Hypotonia |
| HP:0004430 | Severe combined immunodeficiency |
| HP:0000708 | Atypical behavior |
| HP:0002725 | Systemic lupus erythematosus |
| HP:0001297 | Stroke |
| HP:0005390 | Recurrent opportunistic infections |
| HP:0002732 | Lymph node hypoplasia |
| HP:0000388 | Otitis media |
