Bone marrow transplantation in Schimke immuno-osseous dysplasia

Authors

  • Alireza Baradaran-Heravi,

    1. Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
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  • Jonas Lange,

    1. Department of Pediatric Hematology and Oncology, University Children's Hospital, Münster, Germany
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  • Yumi Asakura,

    1. Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Yokohama, Japan
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  • Pierre Cochat,

    1. Service de Pédiatrie, Centre de Référence des Maladies Rénales Rares, Hospices Civils de Lyon and Université de Lyon, Lyon, France
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  • Laura Massella,

    1. Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
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  • Cornelius F. Boerkoel

    Corresponding author
    1. Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
    • Correspondence to:

      Cornelius F. Boerkoel, M.D., Ph.D., Provincial Medical Genetics Program, Department of Medical Genetics, Children's and Women's Health Centre of BC, 4500 Oak St., Rm. C234, Vancouver, British Columbia, Canada V6H 3N1.

      E-mail: boerkoel@interchange.ubc.ca

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  • Conflict of interest: none.

Abstract

Schimke immuno-osseous dysplasia (SIOD, OMIM 242900) is a rare autosomal recessive multisystem childhood disorder characterized by short stature, renal failure, T-cell immunodeficiency, and hypersensitivity to genotoxic agents. SIOD is associated with biallelic mutations in SMARCAL1 (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin, subfamily a-like 1), which encodes a DNA stress response enzyme with annealing helicase activity. Two features of SIOD causing much morbidity and mortality are bone marrow failure and T-cell deficiency with the consequent opportunistic infections. To address the safety and efficacy of bone marrow transplantation (BMT) in SIOD, we reviewed the outcomes of the only five SIOD patients known to us in whom bone marrow or hematopoietic stem cell transplantation has been attempted. We find that only one patient survived the transplantation procedure and that the existing indicators of a good prognosis for bone marrow transplantation were not predictive in this small cohort. Given these observations, we also discuss some considerations for the poor outcomes. © 2013 Wiley Periodicals, Inc.

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