Term Name: | purine nucleoside phosphorylase deficiency |
---|---|
Synonyms: | deficiency of inosine phosphorylase, PNP deficiency, Purine-Nucleoside Phosphorylase deficiency |
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. |
Ontology: | Human Disease [DOID:5813] ( DOID:5813 ) |