Purine nucleoside phosphorylase deficiency

Purine nucleoside phosphorylase deficiency
ICD-10	D81.5
ICD-9	277.2
OMIM	164050
DiseasesDB	11044
eMedicine	ped/1957

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Overview

Purine nucleoside phosphorylase deficiency is a rare congenital immunodeficiency of purine nucleoside phosphorylase. This enzyme is important in the purine degradation pathway. A deficiency of it causes T-cell immunodeficiency. It is also often associated with neurological disorders such as mental retardation.

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