An unconditioned bone marrow transplantation in a child with purine nucleoside phosphorylase deficiency and its unique complication

Aytekin C., Yuksek M., DOĞU E. F., Yagmurlu A., Yildiran A., FİTOZ Ö. S., ...Daha Fazla

PEDIATRIC TRANSPLANTATION, sa.4, ss.479-482, 2008 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Basım Tarihi: 2008
  • Doi Numarası: 10.1111/j.1399-3046.2007.00890.x
  • Dergi Adı: PEDIATRIC TRANSPLANTATION
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.479-482
  • Anahtar Kelimeler: purine nucleoside phosphorylase deficiency, bone marrow transplantation, disseminated BCG infection, DEVELOPMENTAL DELAY, PATIENT, INFECTION, MUTATIONS
  • Ankara Üniversitesi Adresli: Evet

Özet

Purine nucleoside phosphorylase deficiency is a rare immunodeficiency syndrome characterized by recurrent infections, neurological dysfunction, and autoimmunity. Early diagnosis and hematopoietic stem cell transplantation may reverse the dismal prognosis in PNP deficiency. This report presents a new PNP deficiency case successfully transplanted without a conditioning regimen from an HLA-identical family donor, who developed a complication of disseminated BCG infection.