Article
A successful unrelated peripheral blood stem cell transplantation with reduced intensity-conditioning regimen in a patient with late-onset purine nucleoside phosphorylase deficiency.
Pediatric transplantation - 1 Mar 2015
Celmeli Fatih, Turkkahraman Doga, Uygun Vedat, la Marca Giancarlo, Hershfield Michael, Yesilipek Akif
Abstract excerpt
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...
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