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Pediatric Transplants

Successful SCT for Nijmegen breakage syndrome

Bone Marrow Transplantation volume 45, pages 622–626 (2010)Cite this article

Abstract

Nijmegen breakage syndrome (NBS) is characterized by chromosomal instability, radiation hypersensitivity, characteristic facial appearance, immunodeficiency and strong predisposition to lymphoid malignancy. Traditionally, NBS patients have not undergone hematopoietic SCT (HSCT) owing to concerns about increased toxicity. We therefore report on the HSCT experience in NBS patients in Europe. Six patients were transplanted either for resistant or secondary malignancy (four patients) or severe immunodeficiency (two patients). Five patients received reduced-intensity conditioning regimens. After a median follow-up of 2.2 years, five patients are alive and well. One patient who received myeloablative conditioning died from sepsis before engraftment. Acute GVHD grades I–II occurred in three of five patients, mild chronic GVHD in one. All five surviving patients exhibit restored T-cell immunity. The experience in these six patients suggests that HSCT in NBS is feasible, can correct the immunodeficiency and effectively treat malignancy. Acute toxicity seems to be reasonable with reduced-intensity conditioning regimens.

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Authors and Affiliations

  1. Departments of Pediatric Hematology/Oncology and Infection/Immunity, Dr von Haunersches Kinderspital der LMU, Munich, Germany

    M H Albert, G Notheis, M Führer, I Schmid & B H Belohradsky

  2. Department of Pediatric Immunology, Institute of Cellular Medicine, University of Newcastle upon, Tyne, UK

    A R Gennery

  3. Department of Pediatric Hematology and Oncology, University Hospital, Heidelberg, Germany

    J Greil

  4. Department of Immunology, Great Ormond Street Hospital, London, UK

    C M Cale

  5. Department of Pediatric Hematology/Oncology/BMT, Wroclaw, Poland

    K Kalwak

  6. Department of Immunology, Russian Children's Clinical Hospital, Moscow, Russia

    I Kondratenko

  7. Department of Pediatrics, Oncology, Hematology & Diabetology, Medical University of Lodz, Lodz, Poland

    W Mlynarski

Authors
  1. M H Albert
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  2. A R Gennery
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  3. J Greil
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  4. C M Cale
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  5. K Kalwak
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  6. I Kondratenko
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  7. W Mlynarski
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  8. G Notheis
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  9. M Führer
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  10. I Schmid
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  11. B H Belohradsky
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Correspondence to M H Albert.

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Albert, M., Gennery, A., Greil, J. et al. Successful SCT for Nijmegen breakage syndrome. Bone Marrow Transplant 45, 622–626 (2010). https://doi.org/10.1038/bmt.2009.207

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  • DOI: https://doi.org/10.1038/bmt.2009.207

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