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

作者：Celmeli Fatih^*; Turkkahraman Doga; Uygun Vedat; la Marca Giancarlo; Hershfield Michael; Yesilipek Akif

来源：Pediatric Transplantation, 2015, 19(2): E47-E50.

DOI：10.1111/petr.12413

• peripheral blood stem cell transplantation
• purine nucleoside phosphorylase deficiency
• late-onset

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 twoyr. 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.

• 出版日期2015-3