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MIRAGE
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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001297 | Stroke |
| HP:0001890 | Autoimmune hemolytic anemia |
| HP:0000707 | Abnormality of the nervous system |
| HP:0001252 | Hypotonia |
| HP:0005363 | Humoral immunodeficiency |
| HP:0001263 | Global developmental delay |
| HP:0011935 | Decreased urinary urate |
| HP:0001270 | Motor delay |
| HP:0000246 | Sinusitis |
| HP:0001337 | Tremor |
