Purine nucleoside phosphorylase deficiency

What is long-term outlook for Purine nucleoside phosphorylase (PNP) deficiency?

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 on 05-01-20

Connect with other users with Purine nucleoside phosphorylase deficiency on the RareGuru app

Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

People Using the App

Join the RareGuru Community

To connect, share, empower and heal today.

People Using the App