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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Purine nucleoside phosphorylase deficiency


Other Names for this Disease

  • PNP deficiency
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Your Question

What is the life expectancy for someone with purine nucleoside phosphorylase deficiency?

Our Answer

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What is the life expectancy for someone with purine nucleoside phosphorylase deficiency?

Purine nucleoside phosphorylase (PNP) deficiency usually causes death during the first or second decade of life due to recurrent infections.[1] If successful, treatment with a bone marrow transplant may cure the immune system problems and improve the prognosis.[2] However, bone marrow transplantation does not correct the neurologic symptoms associated with this condition.[2]
Last updated: 6/29/2009

References
Other Names for this Disease
  • PNP deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.