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Clin Genet. 2015 Dec;88(6):507-15. doi: 10.1111/cge.12576. Epub 2015 Mar 23.

Gene therapy for primary immunodeficiencies.

Fischer A1,2,3,4, Hacein-Bey Abina S5,6, Touzot F1,3,7,8, Cavazzana M1,3,7,8.

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Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.
Immunology and Pediatric Hematology Department, Assistance Publique-Hôpitaux de Paris, Paris, France.
INSERM UMR 1163, Institut Imagine, Paris, France.
Collège de France, Paris, France.
UTCBS CNRS 8258 - INSERM U1022, Faculté des Sciences Pharmaceutiques et Biologiques, Université Paris Descartes, Paris, France.
Immunology Laboratory, Groupe Hospitalier Universitaire Paris-Sud, Le-Kremlin-Bicêtre, France.
Biotherapy Department, Necker Children's Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
Biotherapy Clinical Investigation Center, Groupe Hospitalier Universitaire Ouest, Assistance Publique-Hôpitaux de Paris, INSERM, Paris, France.


Gene therapy has effectively entered Medicine via the field of primary immunodeficiencies (PID). Because hematopoietic stem cells are accessible and because it was understood that genetic correction of lymphocyte progenitor cells carrying a genetic defect impairing differentiation, could result in the production of long-lived T lymphocytes, it was reasoned that ex vivo gene transfer in hematopoietic cells could lead to disease phenotype correction. Retroviral vectors were designed to ex vivo transduce such cells. This has indeed been shown to lead to sustained correction of the T cell immunodeficiency associated with two forms of severe combined immunodeficiencies (SCID) for now more than ten years. Occurrence in some patients of genotoxicity related to retroviral vectors integration close to and transactivation of oncogenes has led to the development of retroviral vectors devoid of its enhancer element. Results of recent trials performed for several forms of PID indeed suggest that their use is both safe and efficacious. It is thus anticipated that their application to the treatment of many more life threatening PID will be developed over the coming years.


Wiskott-Aldrich syndrome; gene therapy; primary immunodeficiencies; self-inactivating retrovirus; severe combined immunodeficiency

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