title: Mixed chimerism following bone marrow transplantation for severe combined immunodeficiency: a study by DNA fingerprinting and simultaneous immunophenotyping and fluorescence in situ hybridisation.
abstract: We report a girl with severe combined immunodeficiency (SCID) who had a paternal T-depleted bone marrow transplant (BMT) when 11 months old. Engraftment was documented but karyotyping of marrow cells 1 year after BMT showed recipient metaphases (XX) only. However, she remained clinically well and further analysis y karyotyping of PHA-cultured peripheral blood mononuclear cells (PBMC) showed donor metaphases (XY) only. DNA fingerprinting confirmed mixed chimerism in the peripheral blood. The granulocytes were of recipient origin and the PBMC of mixed origin, the donor proportion of which increased after culture with PHA. Using simultaneous immunophenotyping and fluorescence in situ hybridisation (FISH) with chromosomes X and Y-specific probes, circulating T cells were demonstrated to be of donor origin whereas B cells and myeloid cells were mostly of recipient origin.
authors.affiliation: Department of Paediatrics, University of Hong Kong, Queen Mary Hospital.
authors.forename: Y L
authors.initials: YL
authors.lastname: Lau
authors.forename: Y L
authors.initials: YL
authors.lastname: Kwong
authors.forename: A C
authors.initials: AC
authors.lastname: Lee
authors.forename: E K
authors.initials: EK
authors.lastname: Chiu
authors.forename: S Y
authors.initials: SY
authors.lastname: Ha
authors.forename: C F
authors.initials: CF
authors.lastname: Chan
authors.forename: V
authors.initials: V
authors.lastname: Chan
authors.forename: T K
authors.initials: TK
authors.lastname: Chan
mesh_terms: D000328:Adult; D015415:Biomarkers; D001856:Bone Marrow Examination / Q000379:methods*; D016026:Bone Marrow Transplantation / Q000473:pathology; D002678:Chimera; D016172:DNA Fingerprinting; D005260:Female; D006085:Graft Survival; D006098:Granulocytes; D006801:Humans; D016130:Immunophenotyping; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007963:Leukocytes, Mononuclear; D008212:Lymphocyte Depletion; D008297:Male; D016511:Severe Combined Immunodeficiency / Q000473:pathology / Q000628:therapy*; D013601:T-Lymphocytes; D014960:X Chromosome; D014998:Y Chromosome
chemical_list: D015415:Biomarkers