title: First experience of hematopoietic stem cell transplantation treatment of Shwachman-Diamond syndrome using unaffected HLA-matched sibling donor produced through preimplantation HLA typing.
abstract: The only proven cure for Shwachman-Diamond syndrome (SDS) bone marrow failure is allogeneic hematopoietic stem cell transplantation (HSCT). However HSCT with donors other than HLA-identical siblings is associated with high mortality and unfavorable prognosis. This paper presents the first experience of HSCT treatment of SDS using an unaffected HLA-identical sibling produced through preimplantation genetic diagnosis (PGD). The patient was a 6-year-old blood transfusion-dependent SDS baby girl with secondary myelodysplastic syndrome, for whom no HLA-identical donor was available. As a result of PGD, two unaffected HLA matched embryos were identified; one of them was randomly selected for transfer, resulting in a clinical pregnancy and birth of an apparently healthy child. The patient underwent allogeneic transplantation of cord blood hematopoietic stem cells, together with bone marrow from this sibling, resulting in complete hemopoietic recovery. The patient was no longer transfusion-dependent and had normal blood values 160 days after transplantation.
authors.affiliation: PJSC Human Stem Cells Institute, Moscow, Russia.
authors.forename: A A
authors.initials: AA
authors.lastname: Isaev
authors.affiliation: PJSC Human Stem Cells Institute, Moscow, Russia.|Department of Pathological Anatomy with Forensic Medicine Course, I.P. Pavlov Ryazan State Medical University, Ryazan, Russia.
authors.forename: R V
authors.initials: RV
authors.lastname: Deev
authors.affiliation: Reproductive Genetics Institute, Chicago, IL, USA.
authors.forename: A
authors.initials: A
authors.lastname: Kuliev
authors.affiliation: PJSC Human Stem Cells Institute, Moscow, Russia.
authors.forename: I L
authors.initials: IL
authors.lastname: Plaxa
authors.affiliation: First I.P. Pavlov St Petersburg State Medical University, R. Gorbacheva Memorial Research Institute for Pediatric Oncology, Hematology and Transplantation (RIPOHT), Saint-Petersburg, Russia.
authors.forename: N V
authors.initials: NV
authors.lastname: Stancheva
authors.affiliation: First I.P. Pavlov St Petersburg State Medical University, R. Gorbacheva Memorial Research Institute for Pediatric Oncology, Hematology and Transplantation (RIPOHT), Saint-Petersburg, Russia.
authors.forename: A S
authors.initials: AS
authors.lastname: Borovkova
authors.affiliation: PJSC Human Stem Cells Institute, Moscow, Russia.
authors.forename: I V
authors.initials: IV
authors.lastname: Potapov
authors.affiliation: PJSC Human Stem Cells Institute, Moscow, Russia.
authors.forename: E A
authors.initials: EA
authors.lastname: Pomerantseva
authors.affiliation: PJSC Human Stem Cells Institute, Moscow, Russia.
authors.forename: A G
authors.initials: AG
authors.lastname: Chogovadze
authors.affiliation: IVF-clinic 'Genesis', Saint-Petersburg, Russia.
authors.forename: K Y
authors.initials: KY
authors.lastname: Boyarsky
authors.affiliation: IVF-clinic 'Genesis', Saint-Petersburg, Russia.
authors.forename: A E
authors.initials: AE
authors.lastname: Semenenko
authors.affiliation: Maternity Home No.17, Saint-Petersburg, Russia.
authors.forename: A V
authors.initials: AV
authors.lastname: Mikhailov
authors.affiliation: PJSC Human Stem Cells Institute, Moscow, Russia.
authors.forename: K G
authors.initials: KG
authors.lastname: Shevchenko
authors.affiliation: PJSC Human Stem Cells Institute, Moscow, Russia.
authors.forename: A V
authors.initials: AV
authors.lastname: Prikhodko
authors.affiliation: Reproductive Genetics Institute, Chicago, IL, USA.
authors.forename: S
authors.initials: S
authors.lastname: Rechitsky
authors.affiliation: First I.P. Pavlov St Petersburg State Medical University, R. Gorbacheva Memorial Research Institute for Pediatric Oncology, Hematology and Transplantation (RIPOHT), Saint-Petersburg, Russia.
authors.forename: O V
authors.initials: OV
authors.lastname: Paina
authors.affiliation: First I.P. Pavlov St Petersburg State Medical University, R. Gorbacheva Memorial Research Institute for Pediatric Oncology, Hematology and Transplantation (RIPOHT), Saint-Petersburg, Russia.
authors.forename: I M
authors.initials: IM
authors.lastname: Barchatov
authors.affiliation: First I.P. Pavlov St Petersburg State Medical University, R. Gorbacheva Memorial Research Institute for Pediatric Oncology, Hematology and Transplantation (RIPOHT), Saint-Petersburg, Russia.
authors.forename: L S
authors.initials: LS
authors.lastname: Zubarovskaya
authors.affiliation: Reproductive Genetics Institute, Chicago, IL, USA.
authors.forename: O
authors.initials: O
authors.lastname: Verlinsky
authors.affiliation: PJSC Human Stem Cells Institute, Moscow, Russia.
authors.forename: I Y
authors.initials: IY
authors.lastname: Bozo
authors.affiliation: First I.P. Pavlov St Petersburg State Medical University, R. Gorbacheva Memorial Research Institute for Pediatric Oncology, Hematology and Transplantation (RIPOHT), Saint-Petersburg, Russia.
authors.forename: B V
authors.initials: BV
authors.lastname: Afanasyev
mesh_terms: D001855:Bone Marrow Diseases / Q000628:therapy*; D002648:Child; D010188:Exocrine Pancreatic Insufficiency / Q000628:therapy*; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods; D006650:Histocompatibility Testing / Q000379:methods; D006801:Humans; D008068:Lipomatosis / Q000628:therapy*; D019836:Preimplantation Diagnosis / Q000379:methods*; D000081003:Shwachman-Diamond Syndrome; D035781:Siblings; D014019:Tissue Donors; D019172:Transplantation Conditioning / Q000379:methods*; D014184:Transplantation, Homologous / Q000379:methods*