title: HLA-haploidentical blood progenitor cell transplantation in osteopetrosis.
abstract: Infantile osteopetrosis (OP) carries an extremely poor prognosis unless treated early by hematopoietic stem cell transplantation. We explored the use of purified blood progenitor cells from HLA-haploidentical parents in 7 patients lacking suitable matched donors. Blood progenitor cells were purified by positive selection and by additional T-cell depletion using rosette formation. For conditioning, patients received busulfan, thiotepa, and either cyclophosphamide (5 patients) or fludarabine (2 patients). Stable donor engraftment developed in 6 of 7 patients. Graft-versus-host disease was not observed. Three of the 7 patients had no major complications and 4 of 7 had both veno-occlusive disease and respiratory failure. Five of 7 patients survive with complete cure of OP at a median of 4 years. Patients with OP lacking HLA-matched donors can be successfully treated by transplantation of purified blood progenitor cells from HLA-haploidentical donors.
authors.affiliation: Department of Pediatrics, University of Ulm, Ulm, Germany. ansgar.schulz@gmx.de
authors.forename: Ansgar S
authors.initials: AS
authors.lastname: Schulz
authors.forename: Carl Friedrich
authors.initials: CF
authors.lastname: Classen
authors.forename: Walther A
authors.initials: WA
authors.lastname: Mihatsch
authors.forename: Michael
authors.initials: M
authors.lastname: Sigl-Kraetzig
authors.forename: Markus
authors.initials: M
authors.lastname: Wiesneth
authors.forename: Klaus-Michael
authors.initials: KM
authors.lastname: Debatin
authors.forename: Wilhelm
authors.initials: W
authors.lastname: Friedrich
authors.forename: Susanna M
authors.initials: SM
authors.lastname: Müller
mesh_terms: D001773:Blood Cells / Q000637:transplantation; D018572:Disease-Free Survival; D005192:Family Health; D005260:Female; D006239:Haplotypes; D018380:Hematopoietic Stem Cell Transplantation / Q000009:adverse effects / Q000379:methods*; D006650:Histocompatibility Testing; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008212:Lymphocyte Depletion; D008297:Male; D010022:Osteopetrosis / Q000150:complications / Q000151:congenital / Q000628:therapy*; D019172:Transplantation Conditioning / Q000009:adverse effects; D016896:Treatment Outcome