Purine-nucleoside phosphorylase deficiency

Source:http://linkedlifedata.com/resource/umls/id/C0268125

NCI: PNP reversibly catalyzes the phosphorolysis of the purine nucleosides, (deoxy)inosine and (deoxy)guanosine, to their respective purine bases and the corresponding ribose-1-phosphate. Deficiency in this enzyme is an autosomal recessive cause of combined immunodeficiency.

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