National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Purine nucleoside phosphorylase deficiency

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What is the life expectancy for someone with purine nucleoside phosphorylase deficiency?
If left untreated, PNP deficiency usually causes death during the first or second decade of life due to recurrent infections.[1] Treatment with a bone marrow transplant may cure the immune system problems and improve the prognosis. However, bone marrow transplantation does not correct the neurologic symptoms associated with this condition.[2]
Last updated: 10/5/2016

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  1. CF Classen, AS Schulz, M Sigl-Kraetzig, GF Hoffmann, HA Simmonds, L Fairbanks, KM Debatin, W Friedrich. Successful HLA-identical bone marrow transplantation in a patient with PNP deficiency using busulfan and fludarabine for conditioning. Bone Marrow Transplantation. July 1, 2001; 28:93-96. http://www.nature.com/bmt/journal/v28/n1/full/1703100a.html. Accessed 10/5/2016.
  2. Knutsen AP. Purine Nucleoside Phosphorylase Deficiency. Medscape. Sep 22, 2015; http://emedicine.medscape.com/article/887823. Accessed 10/5/2016.