Τίτλος:
Successful Hematopoietic Stem Cell Transplantation in 2 Children with X-Linked Chronic Granulomatous Disease from Their Unaffected HLA-Identical Siblings Selected Using Preimplantation Genetic Diagnosis Combined with HLA Typing
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
We report 2 children with X-linked chronic granulomatous disease (X-CGD) who underwent hematopoietic stem cell transplantation (HSCT) using grafts from their siblings selected before implantation to be both unaffected and HLA-matched donors. Preimplantation genetic diagnosis (PGD) along with HLA-typing were performed on preimplantation embryos by single-cell multiplex polymerase chain reaction using informative short tandem repeat markers in the HLA locus together with the gene region containing the mutations. Two singleton pregnancies resulted from the intrauterine transfer of selected embryos; these developed to term, producing 1 healthy female and 1 X-CGD carrier female, which are HLA-identical siblings to the 2 affected children. Combined grafts of umbilical cord blood (UCB) and bone marrow (BM) stem cells were administered to the recipients after myeloablative (MA) conditioning at the ages of 4.5 years and 4 years, respectively. Both patients are well, with complete donor hematopoietic and immunologic reconstitution, at 18 and 13 months posttransplantation, respectively. This report demonstrates that HSCT with HLA-matched sibling donors created by PGD/HLA typing of in vitro fertilized embryos is a realistic therapeutic option and should be presented as such to families with children who require a non-urgent HSCT but lack an HLA-genoidentical donor. © 2010 American Society for Blood and Marrow Transplantation.
Συγγραφείς:
Goussetis, E.
Konialis, C.P.
Peristeri, I.
Kitra, V.
Dimopoulou, M.
Petropoulou, T.
Vessalas, G.
Papassavas, A.
Tzanoudaki, M.
Kokkali, G.
Petrakou, E.
Spiropoulos, A.
Pangalos, C.G.
Pantos, K.
Graphakos, S.
Περιοδικό:
Biology of Blood and Marrow Transplantation
Λέξεις-κλειδιά:
cyclosporin A; HLA antigen; immunoglobulin, article; case report; child; chronic granulomatous disease; cord blood stem cell transplantation; donor selection; embryo; fertilization in vitro; gene locus; gene mutation; graft versus host reaction; hematopoietic stem cell transplantation; heterozygote; HLA typing; human; male; monozygotic twins; multiplex polymerase chain reaction; myeloablative conditioning; preimplantation embryo; prenatal diagnosis; preschool child; short tandem repeat; treatment outcome; X chromosome linked disorder, Blood Platelets; Bone Marrow Cells; Cell Count; Child, Preschool; Embryo, Mammalian; Female; Fertilization in Vitro; Fetal Blood; Graft Survival; Granulomatous Disease, Chronic; Hematopoietic Stem Cell Transplantation; Histocompatibility Testing; HLA Antigens; Humans; Male; Membrane Glycoproteins; Mutation, Missense; NADPH Oxidase; Neutrophils; Preimplantation Diagnosis; Respiratory Burst; Siblings; Superoxides; Tetradecanoylphorbol Acetate; Transplantation Chimera; Treatment Outcome
DOI:
10.1016/j.bbmt.2009.10.010
