Fabien Touzot , M.D. , Ph.D.
    Fabien Touzot
    Research Axis
    Immune Diseases and Cancer Axis
    Research Theme
    Immune diseases: mechanisms, new therapeutic approaches and disease outcomes
    CHUSJ - Centre de Recherche

    514 345-4931 ext. 7603


    • Clinical Assistant Professor, Department of Pediatrics, Faculty of Medicine, University of Montreal


    • PhD in Immunology, Université Paris 7 (2011)<
    • M.D., Université Paris 5 (2007)
    • Pediatric Speciality, Université Paris 5 (2007)

    Research Interests

    • Gene therapy of hematopoietic stem cells
    • Gene editing
    • Primary Immune Deficiency
    • Hereditary diseases of hematopoeisis
    • Pathophysiology of inflammatory manifestations in primary immunodeficiency

    Career Summary

    After completing a training as a clinician-researcher in pediatric immunology and hematology, I was head of the laboratory of cell and gene therapy at the Necker-Enfants Malades hospital from 2012 to 2016. Within this laboratory, I led gene therapy trials of hematopoietic stem cells for the treatment of primary immune deficiencies, hemoglobin disorders and HIV infection from fundamental aspect to clinical delivery.

    My research laboratory at the CHU Sainte-Justine research center is interested in:

    • Modifications of hematopoietic stem cells by gene edition for the development of novel therapiesx for hereditary and acquired diseases of the hematopoietic system.
    • Pathophysiology of inflammatory manifestations associated with hereditary immune deficits: elucidating the mechanisms linking inflammation and immunodeficiency


    1. Fifteen years of gene therapy at the Necker-Enfants Malades Hospital. 12ème colloque de l'Association de thérapie génique du Québec, Canada (2016).

    2. Gene Therapy for Thalassemia: an update. Inborn error Working Party of the EBMT, Spain (2015).
    3. Necker experience on lentiviral transduction of CD34+ cells of patients affected with chronic granulomatosis disease. Advanced Cell-based Therapies for the treatment of Primary Immunodeficiency (CELL-PID), Italy (2014).

    4. Faster T cell development in SCID-X1 patients treated with Gene Therapy as compared to haploidentical-HSCT. Inborn error Working Party of EBMT, Germany (2014).


    1. Mammalian target of rapamycin inhibition counterbalances the inflammatory status of immune cells in patients with chronic granulomatous disease. Gabrion A, Hmitou I, Moshous D, Neven B, Lefèvre-Utile A, Diana JS, Suarez F, Picard C, Blanche S, Fischer A, Cavazzana M, Touzot F. J Allergy Clin Immunol. 2016 Oct 1
    2. An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation. Le Guen T, Touzot F, André-Schmutz I, Lagresle-Peyrou C, France B, Kermasson L, Lambert N, Picard C, Nitschke P, Carpentier W, Bole-Feysot C, Lim A, Cavazzana M, Callebaut I, Soulier J, Jabado N, Fischer A, de Villartay JP, Revy P.
    3. Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder. Glousker G, Touzot F, Revy P, Tzfati Y, Savage SA. Br J Haematol. 2015 Aug;170(4):457-71.
    4. Faster T-cell development following gene therapy compared with haploidentical HSCT in the treatment of SCID-X1. Touzot F, Moshous D, Creidy R, Neven B, Frange P, Cros G, Caccavelli L, Blondeau J, Magnani A, Luby JM, Ternaux B, Picard C, Blanche S, Fischer A, Hacein-Bey-Abina S, Cavazzana M. Blood. 2015 Jun 4;125(23):3563-9
    5. Gene therapy for inherited immunodeficiency. Touzot F, Hacein-Bey-Abina S, Fischer A, Cavazzana M. Expert Opin Biol Ther 2014 Jun;14(6):789-98.

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