Purine nucleoside phosphorylase (PNP) deficiency: A condition which is characterized by a deficiency of purine nucleoside phosphorylate. More detailed information about the symptoms, causes, and treatments of Purine nucleoside phosphorylase (PNP) deficiency is available below.
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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. - (Source - Diseases Database)
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