title: Failure of allogeneic bone marrow transplantation to correct Diamond-Blackfan anaemia despite haemopoietic stem cell engraftment.
abstract: We report the case of a 10-year-old boy with congenital pure red cell aplasia (Diamond-Blackfan anaemia) who received an allogeneic bone marrow transplant (BMT) from his HLA-identical sister. The transplant was complicated by moderate veno-occlusive disease (VOD). Despite cytogenetic evidence of complete donor haemopoietic stem cell engraftment there was selective failure of red cell engraftment and he remains red cell transfusion-dependent. This is the first case of a stem cell transplant failing to correct the defect in this condition despite engraftment.
authors.affiliation: Royal Children's Hospital, Manchester, UK.
authors.forename: R F
authors.initials: RF
authors.lastname: Wynn
authors.forename: J D
authors.initials: JD
authors.lastname: Grainger
authors.forename: T F
authors.initials: TF
authors.lastname: Carr
authors.forename: O B
authors.initials: OB
authors.lastname: Eden
authors.forename: R F
authors.initials: RF
authors.lastname: Stevens
authors.forename: A M
authors.initials: AM
authors.lastname: Will
mesh_terms: D016026:Bone Marrow Transplantation; D002648:Child; D005199:Fanconi Anemia / Q000628:therapy*; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D014184:Transplantation, Homologous; D017211:Treatment Failure