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CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation

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  • Emmanuel Martin

    (Laboratoire Activation Lymphocytaire et Susceptibilité à l’EBV, INSERM UMR 1163, Hôpital Necker Enfants-Malades, Paris 75015, France
    Université Paris Descartes Sorbonne Paris Cité, Institut Imagine, Paris 75015, France)

  • Noé Palmic

    (Laboratoire Activation Lymphocytaire et Susceptibilité à l’EBV, INSERM UMR 1163, Hôpital Necker Enfants-Malades, Paris 75015, France
    Université Paris Descartes Sorbonne Paris Cité, Institut Imagine, Paris 75015, France)

  • Sylvia Sanquer

    (Laboratoire de Biochimie Métabolomique et Protéomique, Hôpital Necker Enfants-Malades, Paris 75015, France)

  • Christelle Lenoir

    (Laboratoire Activation Lymphocytaire et Susceptibilité à l’EBV, INSERM UMR 1163, Hôpital Necker Enfants-Malades, Paris 75015, France
    Université Paris Descartes Sorbonne Paris Cité, Institut Imagine, Paris 75015, France)

  • Fabian Hauck

    (Laboratoire Activation Lymphocytaire et Susceptibilité à l’EBV, INSERM UMR 1163, Hôpital Necker Enfants-Malades, Paris 75015, France
    Université Paris Descartes Sorbonne Paris Cité, Institut Imagine, Paris 75015, France)

  • Cédric Mongellaz

    (Hematopoiesis and Immunotherapy, CNRS-UMR 5535, Institut de Génétique Moléculaire de Montpellier, Montpellier 34293, France)

  • Sylvie Fabrega

    (Université Paris Descartes Sorbonne Paris Cité, Institut Imagine, Paris 75015, France
    Plateforme Vecteurs Viraux et Transfert de Gènes, IFR94, Hôpital Necker Enfants-Malades, Paris 75015, France)

  • Patrick Nitschké

    (Université Paris Descartes Sorbonne Paris Cité, Institut Imagine, Paris 75015, France
    Service de Bioinformatique, Hôpital Necker Enfants-Malades, Paris 75015, France)

  • Mauro Degli Esposti

    (University of Manchester, Royal Manchester Children's Hospital, Manchester M13 0WL, UK
    Italian Institute of Technology, Genoa 16163, Italy)

  • Jeremy Schwartzentruber

    (McGill University and Genome Québec Innovation Centre, Montréal H3A 0G1, Canada)

  • Naomi Taylor

    (Hematopoiesis and Immunotherapy, CNRS-UMR 5535, Institut de Génétique Moléculaire de Montpellier, Montpellier 34293, France)

  • Jacek Majewski

    (McGill University and Genome Québec Innovation Centre, Montréal H3A 0G1, Canada)

  • Nada Jabado

    (McGill University and Genome Québec Innovation Centre, Montréal H3A 0G1, Canada
    McGill University Health Center Research Institute, Montréal H3H 1P3, Canada)

  • Robert F. Wynn

    (University of Manchester, Royal Manchester Children's Hospital, Manchester M13 0WL, UK)

  • Capucine Picard

    (Université Paris Descartes Sorbonne Paris Cité, Institut Imagine, Paris 75015, France
    Centre d'Etude des Déficits Immunitaires, Hôpital Necker Enfants-Malades, AP-HP, Paris 75015, France
    Laboratoire Génétique Humaine des Maladies Infectieuses, INSERM UMR 1163, Hôpital Necker Enfants-Malades, Paris 75015, France)

  • Alain Fischer

    (Laboratoire Activation Lymphocytaire et Susceptibilité à l’EBV, INSERM UMR 1163, Hôpital Necker Enfants-Malades, Paris 75015, France
    Université Paris Descartes Sorbonne Paris Cité, Institut Imagine, Paris 75015, France
    Unité d’Immunologie et Hématologie Pédiatrique, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Necker Enfants-Malades, Paris 75015, France
    Collège de France)

  • Peter D. Arkwright

    (University of Manchester, Royal Manchester Children's Hospital, Manchester M13 0WL, UK)

  • Sylvain Latour

    (Laboratoire Activation Lymphocytaire et Susceptibilité à l’EBV, INSERM UMR 1163, Hôpital Necker Enfants-Malades, Paris 75015, France
    Université Paris Descartes Sorbonne Paris Cité, Institut Imagine, Paris 75015, France
    Laboratoire de Biochimie Métabolomique et Protéomique, Hôpital Necker Enfants-Malades, Paris 75015, France)

Abstract

Loss-of-function mutations in the human CTP synthase 1 gene cause an immunodeficiency disease with impaired T cell proliferation after antigen stimulation, revealing a potential new target for immunosuppressive drugs.

Suggested Citation

  • Emmanuel Martin & Noé Palmic & Sylvia Sanquer & Christelle Lenoir & Fabian Hauck & Cédric Mongellaz & Sylvie Fabrega & Patrick Nitschké & Mauro Degli Esposti & Jeremy Schwartzentruber & Naomi Taylor &, 2014. "CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation," Nature, Nature, vol. 510(7504), pages 288-292, June.
    • Handle: RePEc:nat:nature:v:510:y:2014:i:7504:d:10.1038_nature13386
    DOI: 10.1038/nature13386
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    1. Claire Soudais & Romane Schaus & Camille Bachelet & Norbert Minet & Sara Mouasni & Cécile Garcin & Caique Lopes Souza & Pierre David & Clara Cousu & Hélène Asnagli & Andrew Parker & Paul Palmquist-Gom, 2024. "Inactivation of cytidine triphosphate synthase 1 prevents fatal auto-immunity in mice," Nature Communications, Nature, vol. 15(1), pages 1-19, December.

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