Human genes for purine nucleoside phosphorylase deficiency
Purine nucleoside phosphorylase deficiency [DOID:5813]
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.
Synonyms: purine nucleoside phosphorylase deficiency, DOID:5813, purine nucleoside phosphorylase deficiencies, deficiency of inosine phosphorylase, PNP deficiency ...