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 )

Relationships
is a type of: autosomal recessive disease combined T cell and B cell immunodeficiency