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Inherited Disorders

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Blood and Marrow Transplant Handbook

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Abstract

The indications for pediatric HCT differ significantly from adults with over 40% of allogeneic pediatric transplants treating non-malignant diseases. Many of these inherited conditions may not be acutely life-threatening but rather limit the quality and duration of life. Disease-specific expertise is essential in considering the appropriateness and timing of transplant for many inherited conditions.

Some diseases uniformly benefit from immediate HCT (severe combined immunodeficiency), whereas other diseases (chronic granulomatous disease) may require a more nuanced and dynamic approach as transplant-related mortality continues to decline in recent years. In general, the indications for HCT for inherited disorders are expanding as outcomes improve, while the development pipeline holds many gene therapies which may alter the landscape.

This chapter reviews the use of HCT in the treatment of primary immunodeficiencies, inborn errors of metabolism, inherited bone marrow failure syndromes, and hemoglobinopathies with an emphasis on disease-specific challenges and pre-transplant considerations.

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Authors and Affiliations

  1. Division of Pediatric Hematology and Medical Oncology, Knight Cancer Institute, Oregon Health & Science University, Portland, OR, USA

    Patrick C. DeMartino & Eneida R. Nemecek

Authors
  1. Patrick C. DeMartino
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  2. Eneida R. Nemecek
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Correspondence to Patrick C. DeMartino .

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Editors and Affiliations

  1. Center for Hematologic Malignancies Adult Blood and Marrow Transplant & Cell Therapy Program, Knight Cancer Institute Oregon Health & Science University, Portland, OR, USA

    Richard T. Maziarz

  2. Center for Hematologic Malignancies Adult Blood and Marrow Transplant & Cell Therapy Program, Knight Cancer Institute Oregon Health & Science University, Portland, OR, USA

    Susan Schubach Slater

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DeMartino, P.C., Nemecek, E.R. (2021). Inherited Disorders. In: Maziarz, R.T., Slater, S.S. (eds) Blood and Marrow Transplant Handbook. Springer, Cham. https://doi.org/10.1007/978-3-030-53626-8_24

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  • DOI: https://doi.org/10.1007/978-3-030-53626-8_24

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-53625-1

  • Online ISBN: 978-3-030-53626-8

  • eBook Packages: MedicineMedicine (R0)

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