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Hematopoietic stem cell transplantation for cytidine triphosphate synthase 1 (CTPS1) deficiency

Bone Marrow Transplantation volume 54, pages 130–133 (2019)Cite this article

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To the Editor,

Cytidine triphosphate (CTP) synthase 1 is responsible for the catalytic conversion of uridine triphosphate to CTP in lymphocytes [1]. This reaction is important for the biosynthesis of nucleic acids, playing a key role in lymphocyte function and turnover [1, 2]. Lack of this enzyme due to mutation in CTPS gene is associated with impaired capacity of activated T and B lymphocytes to proliferate in response to antigen-induced activation. Patients with this mutation all have ancestors from the North West of England [1] and present in the first decade of life with severe acute and chronic herpes virus infections and recurrent infections with encapsulated bacteria. There is a high risk of Epstein Bar virus (EBV)-driven lymphoma [1]. This is a potentially life-threatening primary immune deficiency (PID) and long-term survival has not been reported.

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Authors and Affiliations

  1. Great North Children’s Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK

    Zohreh Nademi, Mary Slatter, Mario Abinun, Terry Flood, Sophie Hambleton, Andrew J. Cant & Andrew R. Gennery

  2. Primary Immunodeficiency Group, Institute of Cellular Medicine, Newcastle upon Tyne University, Newcastle upon Tyne, UK

    Zohreh Nademi, Mary Slatter, Mario Abinun, Sophie Hambleton, Andrew J. Cant & Andrew R. Gennery

  3. University of Manchester, Royal Manchester Children’s Hospital, Manchester, UK

    Robert F. Wynn, Stephen M. Hughes, Denise Bonney & Peter D. Arkwright

  4. Department of Pediatric Immunology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK

    Waseem Qasim

  5. Laboratory of Lymphocyte Activation and susceptibility to EBV infection, Inserm UMR 1163, Hôspital Necker-Enfants, Paris, France

    Sylvain Latour

  6. Division of Immunology and the Children’s Research Center, University Children’s Hospital, University of Zurich, Zurich, Switzerland

    Johannes Trück

  7. Oxford NIHR Biomedical Research Centre, Oxford, UK

    Smita Patel

Authors
  1. Zohreh Nademi
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  2. Robert F. Wynn
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  3. Mary Slatter
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  7. Sylvain Latour
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  8. Johannes Trück
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  9. Smita Patel
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  10. Mario Abinun
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  11. Terry Flood
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  12. Sophie Hambleton
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  13. Andrew J. Cant
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  15. Peter D. Arkwright
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Correspondence to Zohreh Nademi.

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Nademi, Z., Wynn, R.F., Slatter, M. et al. Hematopoietic stem cell transplantation for cytidine triphosphate synthase 1 (CTPS1) deficiency. Bone Marrow Transplant 54, 130–133 (2019). https://doi.org/10.1038/s41409-018-0246-x

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  • DOI: https://doi.org/10.1038/s41409-018-0246-x

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