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An unconditioned bone marrow transplantation in a child with purine nucleoside phosphorylase deficiency and its unique complication
Author(s) -
Aytekin Caner,
Yuksek Mutlu,
Dogu Figen,
Yagmurlu Aydin,
Yildiran Alisan,
Fitoz Suat,
Kologlu Meltem,
Babacan Emel,
Hershfield Michael S.,
Ikinciogullari Aydan
Publication year - 2008
Publication title -
pediatric transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.457
H-Index - 69
eISSN - 1399-3046
pISSN - 1397-3142
DOI - 10.1111/j.1399-3046.2007.00890.x
Subject(s) - medicine , purine nucleoside phosphorylase , complication , hematopoietic stem cell transplantation , immunology , transplantation , severe combined immunodeficiency , immunodeficiency syndrome , primary immunodeficiency , immunodeficiency , purine , immune system , enzyme , biochemistry , biology , gene
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.