title: Full hematopoietic engraftment after allogeneic bone marrow transplantation without cytoreduction in a child with severe combined immunodeficiency.
abstract: Bone marrow transplantation (BMT) for severe combined immunodeficiency (SCID) with human leukocyte antigen (HLA)-identical sibling donors but no pretransplantation cytoreduction results in T-lymphocyte engraftment and correction of immune dysfunction but not in full hematopoietic engraftment. A case of a 17-month-old girl with adenosine deaminase (ADA) deficiency SCID in whom full hematopoietic engraftment developed after BMT from her HLA-identical sister is reported. No myeloablative or immunosuppressive therapy or graft-versus-host disease (GVHD) prophylaxis was given. Mild acute and chronic GVHD developed, her B- and T-cell functions became reconstituted, and she is well almost 11 years after BMT. After BMT, repeated studies demonstrated: (1) Loss of a recipient-specific chromosomal marker in peripheral blood leukocytes (PBLs) and bone marrow, (2) conversion of recipient red blood cell antigens to donor type, (3) conversion of recipient T-cell, B-cell, and granulocyte lineages to donor origin by DNA analysis, and (4) increased ADA activity and metabolic correction in red blood cells and PBLs.
authors.affiliation: Departments of Pediatric-Hematology/Oncology and Pathology and Microbiology, University of Nebraska Medical Center, Omaha, NE, USA.
authors.forename: R J
authors.initials: RJ
authors.lastname: Rubocki
authors.forename: J R
authors.initials: JR
authors.lastname: Parsa
authors.forename: M S
authors.initials: MS
authors.lastname: Hershfield
authors.forename: W G
authors.initials: WG
authors.lastname: Sanger
authors.forename: S J
authors.initials: SJ
authors.lastname: Pirruccello
authors.forename: I
authors.initials: I
authors.lastname: Santisteban
authors.forename: B G
authors.initials: BG
authors.lastname: Gordon
authors.forename: S E
authors.initials: SE
authors.lastname: Strandjord
authors.forename: P I
authors.initials: PI
authors.lastname: Warkentin
authors.forename: P F
authors.initials: PF
authors.lastname: Coccia
mesh_terms: D000243:Adenosine Deaminase / Q000172:deficiency* / Q000378:metabolism; D001772:Blood Cell Count; D016026:Bone Marrow Transplantation; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007223:Infant; D007963:Leukocytes, Mononuclear / Q000201:enzymology; D016511:Severe Combined Immunodeficiency / Q000097:blood / Q000201:enzymology / Q000601:surgery*; D014184:Transplantation, Homologous
chemical_list: D000243:Adenosine Deaminase