purine nucleoside phosphorylase deficiency
Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.
MONDO:0015974
severe combined immunodeficiency
excluded_subClassOf
MONDO:0018814
non-SCID combined immunodeficiency
excluded_subClassOf
MONDO:0019236
inborn disorder of purine metabolism
is_a
PNP deficiency
exact
PNPase deficiency
exact
immunodeficiency due to purine nucleoside phosphorylase deficiency
exact
purine nucleoside phosphorylase deficiency
exact
purine-nucleoside phosphorylase deficiency
exact
SPAC1805.16c