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  • A rare autosomal recessive immunodeficiency caused by mutation(s) in the PNP gene, encoding purine nucleoside phosphorylase. It is characterized by recurrent infections resulting from severe T-cell dysfunction.
  • 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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