DISEASES

Disease-gene associations mined from literature

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 caused by a mutaion in the PNP gene and characterized mainly by decreased T-cell function.

Synonyms:  purine nucleoside phosphorylase deficiency,  DOID:5813,  PNP deficiency,  deficiency of inosine phosphorylase