A successful unrelated peripheral blood stem cell transplantation with reduced intensity‐conditioning regimen in a patient with late‐onset purine nucleoside phosphorylase deficiency. (17th December 2014)

• Record Type: Journal Article
• Authors: Celmeli, Fatih; Turkkahraman, Doga; Uygun, Vedat; la Marca, Giancarlo; Hershfield, Michael; Yesilipek, Akif
• Is Part Of: Pediatric transplantation. Volume 19:Number 2(2015:Mar.)
• Page Start: E47
• Page End: E50
• Publication Date: 2014-12-17
• Subjects: Transplantation of organs, tissues, etc. in children -- Periodicals; 617.95408305
• DOI: 10.1111/petr.12413
• Languages: English
• ISSNs: 1397-3142

Abstract

<abstract abstract-type="main" id="petr12413-abs-0001"> <title>Abstract</title> <p>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.</p> </abstract>