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

Emmanuel Martin, Noé Palmic, Sylvia Sanquer, Christelle Lenoir, Fabian Hauck, Cédric Mongellaz, Sylvie Fabrega, Patrick Nitschké, Mauro Degli Esposti, Jeremy Schwartzentruber, Naomi Taylor, Jacek Majewski, Nada Jabado, Robert F. Wynn, Capucine Picard, Alain Fischer, Peter D. Arkwright and Sylvain Latour ()
Additional contact information
Emmanuel Martin: Laboratoire Activation Lymphocytaire et Susceptibilité à l’EBV, INSERM UMR 1163, Hôpital Necker Enfants-Malades, Paris 75015, France
Noé Palmic: Laboratoire Activation Lymphocytaire et Susceptibilité à l’EBV, INSERM UMR 1163, Hôpital Necker Enfants-Malades, 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
Fabian Hauck: Laboratoire Activation Lymphocytaire et Susceptibilité à l’EBV, INSERM UMR 1163, Hôpital Necker Enfants-Malades, 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
Patrick Nitschké: Université Paris Descartes Sorbonne Paris Cité, Institut Imagine, Paris 75015, France
Mauro Degli Esposti: University of Manchester, Royal Manchester Children's Hospital, Manchester M13 0WL, UK
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
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
Alain Fischer: Laboratoire Activation Lymphocytaire et Susceptibilité à l’EBV, INSERM UMR 1163, Hôpital Necker Enfants-Malades, Paris 75015, 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

Nature, 2014, vol. 510, issue 7504, 288-292

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.

Date: 2014
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DOI: 10.1038/nature13386

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