If left untreated, PNP deficiency usually causes death during the first or second decade of life due to recurrent infections. 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.
Last updated: 10/5/2016
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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.