A successful unrelated peripheral blood stem cell transplantation with reduced intensity-conditioning regimen in a patient with late-onset purine nucleoside phosphorylase deficiency.

Journal Article (Journal Article)

PNP deficiency is a rare combined immunodeficiency with autosomal recessive mode of inheritance. The immunodeficiency is progressive with normal immune functions at birth, but then, T-cell deficiency with variable B-cell functions usually presents by the age of two yr. The only curative treatment for PNP deficiency is hematopoietic stem cell transplantation. Here, we present a 13-yr-old girl with late-onset PNP deficiency. Despite many complications of infections, she was successfully transplanted with a reduced intensity-conditioning regimen from an HLA-identical unrelated donor.

Full Text

Duke Authors

Cited Authors

  • Celmeli, F; Turkkahraman, D; Uygun, V; la Marca, G; Hershfield, M; Yesilipek, A

Published Date

  • March 2015

Published In

Volume / Issue

  • 19 / 2

Start / End Page

  • E47 - E50

PubMed ID

  • 25514831

Electronic International Standard Serial Number (EISSN)

  • 1399-3046

Digital Object Identifier (DOI)

  • 10.1111/petr.12413


  • eng

Conference Location

  • Denmark