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

Bone Marrow Transplantation volume 52, pages 905–906 (2017)Cite this article

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Congenital dyserythropoietic anemias (CDA) are rare hereditary diseases of ineffective erythropoiesis with <1000 documented cases worldwide. The disease is characterized by abnormal marrow morphology and genetic mutations, including CDAN1 and C15ORF41 (Type I), SEC23B (Type II), KIF23 (Type III) and KLF1, GATA-1 (variants).1 In severe forms, patients become heavily transfusion-dependent with subsequent erythrocyte alloimmunization and secondary hemochromatosis. To our knowledge, allogeneic hematopoietic stem cell transplant (allo-HSCT) has never been reported in adult CDA patients. Here we report the first adult patient cured of CDA by means of a matched unrelated donor (MUD) non-myeloablative (NMA) allogeneic stem cell transplant utilizing post-transplant high-dose cyclophosphamide (HD-Cy) as GvHD prophylaxis.

He underwent a NMA PBSC transplant from a 10/10 HLA Ag matched, ABO incompatible unrelated donor. The conditioning regimen consisted of rabbit anti-thymocyte globulin (ATG, Thymoglobulin) at 0.5 mg/kg on day −9 then 2 mg/kg on day −8 and −7, fludarabine at 30 mg/m2 from day −6 to −2, cyclophosphamide at 14.5 mg/kg on day −6 to −5 and 2 Gy TBI on day −1. The PBSC graft infused on day 0 contained a stem cell dose of 12.3 × 106 CD34+ cells per kg. GvHD prophylaxis consisted of HD-Cy at 50 mg/kg per day on days +3 and +4, mycophenolate mofetil from day +5 until day +35, and sirolimus starting on day +5.2 The patient received standard antibacterial, anti-fungal, anti-viral and anti-Pneumocystis jiroveci prophylaxis.

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Authors and Affiliations

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

    A Oh, P R Patel, R Chowdhery, K Sweiss & D Rondelli

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

    P R Patel & D Rondelli

  3. Department of Pathology, University of Illinois Hospital and Health Sciences System, Chicago, IL, USA

    N Aardsma & S R Mehendale

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  1. A Oh
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Correspondence to A Oh.

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Oh, A., Patel, P., Aardsma, N. et al. Non-myeloablative allogeneic stem cell transplant with post-transplant cyclophosphamide cures the first adult patient with congenital dyserythropoietic anemia. Bone Marrow Transplant 52, 905–906 (2017). https://doi.org/10.1038/bmt.2017.17

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