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

Aytekin, Caner; Yuksek, Mutlu; DOĞU, ESİN; Yagmurlu, EMİN; Yildiran, Alisan; FİTOZ, ÖMER; KOLOĞLU, MELTEM; Babacan, Emel; Hershfield, Michael; İKİNCİOĞULLARI, KAMİLE

doi:10.1111/j.1399-3046.2007.00890.x

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, Scopus)

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.