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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:0002194 | Delayed gross motor development |
| HP:0003593 | Infantile onset |
| HP:0001337 | Tremor |
| HP:0000010 | Recurrent urinary tract infections |
| HP:0002665 | Lymphoma |
| HP:0005318 | Cerebral vasculitis |
| HP:0001744 | Splenomegaly |
| HP:0001270 | Motor delay |
| HP:0002788 | Recurrent upper respiratory tract infections |
| HP:0000007 | Autosomal recessive inheritance |
