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Tandem hematopoietic stem cell transplant considerations in families with multiple siblings affected by DOCK8 deficiency

Bone Marrow Transplantation volume 57, pages 1721–1723 (2022)Cite this article

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Situations in which multiple siblings require hematopoietic stem cell transplantation (HSCT) arise in inherited bone marrow diseases. Dedicator-of-Cytokinesis-8 (DOCK8) deficiency (a primary immunodeficiency (PID) characterized by atopy, sinopulmonary infections, DNA viral infections, and malignancies such as lymphoma and squamous cell carcinoma [1]) represents one such condition where multiple siblings may be affected, and the only curative therapy is allogeneic HSCT [2,3,4].

HSCT is highly intensive and associated with both short and long-term risks, including transplant-related mortality [3, 5, 6]. Challenges are amplified when more than one family member is affected and HSCT represents the only potentially curative option. Little is known about families’ considerations and preferences of timing and sequence for HSCT when multiple siblings are affected.

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Fig. 1: The Patient and Parent Experience Following Tandem HSCT for DOCK8 Deficiency.

Data availability

The datasets generated during and/or analyzed during the current study are available from the corresponding author on reasonable request.

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Acknowledgements

We thank the patients and their families for participating in this research study at the NCI. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the U.S. Government. Figure created with BioRender.com

Funding

This work was supported by the Intramural Research Program of the National Institute of Allergy and Infectious Diseases and National Cancer Institute, National Institutes of Health (NNS is funded by the Intramural Research Program, Center of Cancer Research, National Cancer Institute, National Institutes of Health (ZIA BC 011823)). This project has been funded in whole or in part with federal funds from the National Cancer Institute, National Institutes of Health, under Contract No. HHSN261200800001E.

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Authors and Affiliations

  1. Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA

    Sara Silbert, Sima Z. Bedoya, Bonnie Yates, Monica Epstein, Lori Wiener & Nirali N. Shah

  2. Children’s National Hospital, Center for Cancer and Blood Disorders, Washington, DC, USA

    Sara Silbert

  3. Search, Procurement, and Outcomes Coordinator, Office of the Clinical Director, Center of Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA

    Kristen Cole

  4. Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA

    Alexandra F. Freeman & Helen C. Su

  5. Division of Hematology-Oncology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA

    Jennifer S. Whangbo

  6. Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA

    Jennifer S. Whangbo

  7. Immune Deficiency-Cellular Therapy Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA

    Daniele N. Avila, Sung-Yun Pai & Dennis D. Hickstein

  8. Department of Bioethics, Clinical Center, National Institutes of Health, Bethesda, MD, USA

    David S. Wendler

Authors
  1. Sara Silbert
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  2. Kristen Cole
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  3. Sima Z. Bedoya
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  7. Helen C. Su
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  11. Sung-Yun Pai
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  14. Nirali N. Shah
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Contributions

SS, KC, SZB, LW, and NNS designed the study and contributed to the first version of the manuscript. SS and LW developed and conducted parent interviews. SS and SB conducted thematic analysis. AFF, DA, HCS, BY, DH, LW, and NNS, provided patient care. DSW contributed to select sections of the manuscript. JSW, and S-YP, contributed expert insight. BY, and ME provided clinical trial support. No non-author wrote the first draft or any part of the paper. All authors contributed to the review of the final manuscript and have agreed to be co-authors.

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Correspondence to Sara Silbert or Lori Wiener.

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Silbert, S., Cole, K., Bedoya, S.Z. et al. Tandem hematopoietic stem cell transplant considerations in families with multiple siblings affected by DOCK8 deficiency. Bone Marrow Transplant 57, 1721–1723 (2022). https://doi.org/10.1038/s41409-022-01778-4

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