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purine nucleoside phosphorylase deficiency

Disease Summary
Associated Targets (1)
Tclin

1


GARD Rare
Mondo Description 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.
Uniprot Description A disorder that interrupts both the catabolism of inosine into hypoxanthine and guanosine into guanine, and leads to the accumulation of guanosine, inosine, and their deoxified by-products. The main clinical presentation is recurrent infections due to severe T-cell immunodeficiency. Some patients also have neurologic impairment.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0013171:  purine nucleoside phosphorylase deficiency
GARD:0004606: 
MESH:C562587: 
NCIT:C3963: 
Orphanet:760: 
SCTID:60743005: 
UMLS:C0268125: