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Non-myeloablative allogeneic stem cell transplant with post-transplant cyclophosphamide cures the first adult patient with congenital dyserythropoietic anemia.

作者信息

Oh A, Patel P R, Aardsma N, Mehendale S R, Chowdhery R, Sweiss K, Rondelli D

机构信息

Division of Hematology/Oncology, University of Illinois Hospital and Health Sciences System, Chicago, IL, USA.

University of Illinois Cancer Center, Chicago, IL, USA.

出版信息

Bone Marrow Transplant. 2017 Jun;52(6):905-906. doi: 10.1038/bmt.2017.17. Epub 2017 Mar 20.

DOI:10.1038/bmt.2017.17
PMID:28319077
Abstract
摘要

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Non-myeloablative allogeneic stem cell transplant with post-transplant cyclophosphamide cures the first adult patient with congenital dyserythropoietic anemia.非清髓性异基因干细胞移植联合移植后环磷酰胺治愈首例先天性红细胞生成异常性贫血成年患者。
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3
Successful treatment of an infant with CDA type II by intrauterine transfusions and postnatal stem cell transplantation.通过宫内输血和产后干细胞移植成功治疗 II 型 CDA 婴儿。
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Second-degree relative donors for T-replete haploidentical allogeneic stem cell transplantation with high-dose post-transplant cyclophosphamide: toward crossing the major HLA barrier.
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Hematopoietic cell transplantation for congenital dyserythropoietic anemia IV caused by compound heterozygous KLF1 mutations.针对由复合杂合性KLF1突变引起的先天性红细胞生成异常性贫血IV型进行造血细胞移植。
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OCTET-CY: a phase II study to investigate the efficacy of post-transplant cyclophosphamide as sole graft-versus-host prophylaxis after allogeneic peripheral blood stem cell transplantation.OCTET-CY 研究：一项 II 期研究，旨在评估异基因外周血造血干细胞移植后环磷酰胺作为唯一移植物抗宿主病预防方案的疗效。
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7
Congenital dyserythropoietic anaemia.先天性红细胞生成异常性贫血
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Unmanipulated haploidentical hematopoietic cell transplantation with post-transplant cyclophosphamide in a patient with paroxysmal nocturnal hemoglobinuria and secondary aplastic anemia.在一名阵发性夜间血红蛋白尿症和继发性再生障碍性贫血患者中进行未处理的单倍体相合造血细胞移植并联合移植后环磷酰胺治疗
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[Leg ulcers in congenital dyserythropoietic anemia].[先天性红细胞生成异常性贫血中的腿部溃疡]
Z Hautkr. 1985 Jan;60(1-2):199-203.
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[Congenital dyserythropoietic anemia].[先天性红细胞生成异常性贫血]
Vnitr Lek. 1991 Feb;37(2):172-7.

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Mutations in the gene cause autosomal recessive congenital dyserythropoietic anemia type III.该基因的突变会导致常染色体隐性遗传性III型先天性红细胞生成异常性贫血。
Haematologica. 2023 Feb 1;108(2):581-587. doi: 10.3324/haematol.2022.281277.
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Stem cell transplantation for congenital dyserythropoietic anemia: an analysis from the European Society for Blood and Marrow Transplantation.

本文引用的文献

1
Posttransplantation cyclophosphamide for prevention of graft-versus-host disease after HLA-matched mobilized blood cell transplantation.移植后环磷酰胺用于预防 HLA 匹配的动员血细胞移植后的移植物抗宿主病。
Blood. 2016 Mar 17;127(11):1502-8. doi: 10.1182/blood-2015-10-672071. Epub 2016 Jan 13.
2
Outcomes of Nonmyeloablative HLA-Haploidentical Blood or Marrow Transplantation With High-Dose Post-Transplantation Cyclophosphamide in Older Adults.老年患者接受非清髓性 HLA 半相合血液或骨髓移植并联合大剂量移植后环磷酰胺的疗效
J Clin Oncol. 2015 Oct 1;33(28):3152-61. doi: 10.1200/JCO.2014.60.4777. Epub 2015 Aug 10.
3
先天性红细胞生成异常性贫血的干细胞移植：来自欧洲血液与骨髓移植学会的分析
Haematologica. 2019 Aug;104(8):e335-e339. doi: 10.3324/haematol.2018.206623. Epub 2019 Jan 24.
Successful Allogeneic Hematopoietic Stem Cell Transplantation of a Patient Suffering from Type II Congenital Dyserythropoietic Anemia A Rare Case Report from Western India.
一名患有II型先天性红细胞生成异常性贫血患者的异基因造血干细胞移植成功：来自印度西部的罕见病例报告
Case Rep Hematol. 2015;2015:792485. doi: 10.1155/2015/792485. Epub 2015 Jan 26.
4
Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II.一名II型先天性红细胞生成异常性贫血患者成功进行造血干细胞移植。
Pediatr Transplant. 2014 Jun;18(4):E130-3. doi: 10.1111/petr.12254. Epub 2014 Apr 12.
5
Successful treatment of an infant with CDA type II by intrauterine transfusions and postnatal stem cell transplantation.通过宫内输血和产后干细胞移植成功治疗 II 型 CDA 婴儿。
Pediatr Blood Cancer. 2014 Apr;61(4):743-5. doi: 10.1002/pbc.24786. Epub 2013 Oct 3.
6
Congenital dyserythropoietic anemias: molecular insights and diagnostic approach.先天性红细胞生成异常性贫血：分子见解与诊断方法。
Blood. 2013 Sep 26;122(13):2162-6. doi: 10.1182/blood-2013-05-468223. Epub 2013 Aug 12.
7
HLA-haploidentical bone marrow transplantation with posttransplant cyclophosphamide expands the donor pool for patients with sickle cell disease.HLA 单倍体相合骨髓移植联合移植后环磷酰胺可扩大镰状细胞病患者的供者池。
Blood. 2012 Nov 22;120(22):4285-91. doi: 10.1182/blood-2012-07-438408. Epub 2012 Sep 6.
8
Unrelated hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia and iron overload.先天性红细胞生成异常性贫血合并铁过载患者的非亲缘造血干细胞移植
Pediatr Transplant. 2012 May;16(3):E69-73. doi: 10.1111/j.1399-3046.2010.01414.x. Epub 2010 Nov 26.
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High-dose cyclophosphamide as single-agent, short-course prophylaxis of graft-versus-host disease.大剂量环磷酰胺作为单一药物、短疗程预防移植物抗宿主病。
Blood. 2010 Apr 22;115(16):3224-30. doi: 10.1182/blood-2009-11-251595. Epub 2010 Feb 2.
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Hematopoietic stem cell transplantation in children with genetic defects.患有遗传缺陷儿童的造血干细胞移植
Indian Pediatr. 2009 Mar;46(3):241-3. Epub 2009 Jan 21.