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Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes

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Abstract

Severe combined immunodeficiency (SCID) is a syndrome of diverse genetic cause characterized by profound deficiencies of T- and B-cell function and, in some types, also of NK cells and function. Mutations in thirteen different genes have been found to cause this condition, which is uniformly fatal in the first 2 years of life unless immune reconstitution can be accomplished. In the 42 years since the first bone marrow transplant was given in 1968, the standard treatment for all forms of SCID has been allogeneic bone marrow transplantation. Both HLA-identical unfractionated and T-cell-depleted HLA-haploidentical bone marrow transplants have been very successful in effecting immune reconstitution, especially if performed in the first 3.5 months of life and without pre-transplant chemotherapy. This paper summarizes the longterm outcome, according to molecular type, of 166 consecutive SCID infants given non-conditioned related donor bone marrow transplants at this institution over the past 28.3 years and reviews published reports of longterm outcomes of transplants in SCID performed at other centers.

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Acknowledgements

This research was supported by Grants AI042951 and AI47605 from the National Institute of Allergy and Infectious Diseases. The author wishes to thank all of those who have participated in the care and study of the SCID infants over the past 3 decades. In particular, she wants to express her gratitude to the research colleagues who have participated in this work, including Marcella Sarzotti-Kelsoe, Ph.D., Roberta E. Parrott, Sherrie E. Schiff, Chan M. Win, Elisa Sajaroff, Zermeena Marshall, Joseph L. Roberts, M.D./Ph.D, and Myriah Cooney.

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  1. Departments of Pediatrics and Immunology, Duke University Medical Center, Box 2898 or 363 Jones Building, Durham, NC, 27710, USA

    Rebecca H. Buckley

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Buckley, R.H. Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes. Immunol Res 49, 25–43 (2011). https://doi.org/10.1007/s12026-010-8191-9

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