title: Transplantation of Haploidentical TcRaß-Depleted Hematopoietic Cells Allows for Optimal Timing and Sustained Correction of the Metabolic Defect in Children With Infantile Osteopetrosis.
abstract: In osteopetrosis, osteoclast dysfunction can lead to deafness, blindness, bone marrow failure, and death. Hematopoietic cell transplantation (HCT) is currently the only curative treatment, but outcome remains disappointing. Although a rapid progression toward HCT is detrimental to prevent further progress of disease manifestations, 70% of cases lack an HLA-matched sibling and require alternative stem cell sources. We present two cases of osteopetrosis that successfully received an HCT with haploidentical TcRαβ-depleted cells from one of the parents. These cases showed no further disease progression, had restoration of functional osteoclasts, and illustrate this approach to enable prompt HCT with ready available parental donors and rapid and sustained hematological, including osteoclast, recovery. © 2016 American Society for Bone and Mineral Research.
authors.affiliation: Department of Pediatric Oncology/Hematology, Skåne University Hospital, Lund, Sweden.|Lund University, Institution for Laboratory Medicine, Division of Molecular Hematology, Lund, Sweden.
authors.forename: Cornelis Jh
authors.initials: CJ
authors.lastname: Pronk
authors.affiliation: Department of Pediatric Oncology/Hematology, Skåne University Hospital, Lund, Sweden.
authors.forename: Dominik
authors.initials: D
authors.lastname: Turkiewicz
authors.affiliation: Center for Medical Imaging and Physiology, Skåne University Hospital, Lund, Sweden.
authors.forename: Kristina
authors.initials: K
authors.lastname: Vult von Steyern
authors.affiliation: Department of Pathology, Skåne University Hospital, Lund, Sweden.
authors.forename: Mats
authors.initials: M
authors.lastname: Ehinger
authors.affiliation: Department of Clinical Immunology and Transfusion Medicine, Office of Medical Services, Lund, Sweden.
authors.forename: Josefina
authors.initials: J
authors.lastname: Dykes
authors.affiliation: Department of Pediatric Oncology/Hematology, Skåne University Hospital, Lund, Sweden.
authors.forename: Jacek
authors.initials: J
authors.lastname: Toporski
mesh_terms: D002648:Child; D002675:Child, Preschool; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007223:Infant; D008297:Male; D010022:Osteopetrosis / Q000000981:diagnostic imaging / Q000378:metabolism* / Q000473:pathology / Q000628:therapy*; D016693:Receptors, Antigen, T-Cell, alpha-beta / Q000378:metabolism*; D013997:Time Factors; D000075442:Transplantation, Haploidentical
chemical_list: D016693:Receptors, Antigen, T-Cell, alpha-beta
keywords: HAPLOIDENTICAL; HEMATOPOIETIC CELL TRANSPLANTATION; OSTEOPETROSIS; TcRαβ-DEPLETION