Purine nucleoside phosphorylase deficiency
Other Names for this Disease
- PNP deficiency
Your QuestionWhat is the life expectancy for someone with purine nucleoside phosphorylase deficiency?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
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.