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.
See full list of 20 symptoms of Purine nucleoside phosphorylase (PNP) deficiency
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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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