Purine nucleoside phosphorylase deficiency
Other Names for this Disease
- PNP deficiency
- PNPase deficiency
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Your QuestionWhat is the life expectancy for someone with purine nucleoside phosphorylase deficiency?
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Purine nucleoside phosphorylase (PNP) deficiency usually causes death during the first or second decade of life due to recurrent infections. If successful, 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: 6/29/2009
- CF Classen, AS Schulz, M Sigl-Kraetzig, GF Hoffmann, HA Simmonds, L Fairbanks, KM Debatin, W Friedrich. Bone Marrow Transplantation. July 1, 2001; 28:93-96. http://www.nature.com/bmt/journal/v28/n1/full/1703100a.html. Accessed 6/29/2009.
- Knutsen AP. Purine Nucleoside Phosphorylase Deficiency. eMedicine Journal. May 21, 2009; http://emedicine.medscape.com/article/887823-followup. Accessed 6/29/2009.