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

Publication ,  Journal Article
Celmeli, F; Turkkahraman, D; Uygun, V; la Marca, G; Hershfield, M; Yesilipek, A
Published in: Pediatr Transplant
March 2015

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.

Duke Scholars

Published In

Pediatr Transplant

DOI

EISSN

1399-3046

Publication Date

March 2015

Volume

19

Issue

2

Start / End Page

E47 / E50

Location

Denmark

Related Subject Headings

  • Transplantation Conditioning
  • Surgery
  • Respiratory Tract Infections
  • Receptors, Antigen, T-Cell
  • Purine-Pyrimidine Metabolism, Inborn Errors
  • Purine-Nucleoside Phosphorylase
  • Primary Immunodeficiency Diseases
  • Peripheral Blood Stem Cell Transplantation
  • Paraplegia
  • Mutation
 

Citation

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Celmeli, F., Turkkahraman, D., Uygun, V., la Marca, G., Hershfield, M., & Yesilipek, A. (2015). A successful unrelated peripheral blood stem cell transplantation with reduced intensity-conditioning regimen in a patient with late-onset purine nucleoside phosphorylase deficiency. Pediatr Transplant, 19(2), E47–E50. https://doi.org/10.1111/petr.12413
Celmeli, Fatih, Doga Turkkahraman, Vedat Uygun, Giancarlo la Marca, Michael Hershfield, and Akif Yesilipek. “A successful unrelated peripheral blood stem cell transplantation with reduced intensity-conditioning regimen in a patient with late-onset purine nucleoside phosphorylase deficiency.Pediatr Transplant 19, no. 2 (March 2015): E47–50. https://doi.org/10.1111/petr.12413.
Celmeli, Fatih, et al. “A successful unrelated peripheral blood stem cell transplantation with reduced intensity-conditioning regimen in a patient with late-onset purine nucleoside phosphorylase deficiency.Pediatr Transplant, vol. 19, no. 2, Mar. 2015, pp. E47–50. Pubmed, doi:10.1111/petr.12413.
Journal cover image

Published In

Pediatr Transplant

DOI

EISSN

1399-3046

Publication Date

March 2015

Volume

19

Issue

2

Start / End Page

E47 / E50

Location

Denmark

Related Subject Headings

  • Transplantation Conditioning
  • Surgery
  • Respiratory Tract Infections
  • Receptors, Antigen, T-Cell
  • Purine-Pyrimidine Metabolism, Inborn Errors
  • Purine-Nucleoside Phosphorylase
  • Primary Immunodeficiency Diseases
  • Peripheral Blood Stem Cell Transplantation
  • Paraplegia
  • Mutation