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Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

Gillian Rice 1 Candice Meyzer 2 Naïm Bouazza 2 Marie Hully 3 Nathalie Boddaert 3 Michaela Semeraro 4 Leo Zeef 1 Flore Rozenberg 4 Vincent Bondet 5 Darragh Duffy 5 Alba Llibre 5 Jinmi Baek 2 Mame Sambe 2 Elodie Henry 2 Valerie Jolaine 2 Christine Barnerias 3 Magalie Barth 6 Alexandre Belot 7 Claude Cances 8 François-Guillaume Debray 9 Diane Doummar 10 Marie-Louise Fremond 11 Naoki Kitabayashi 11 Alice Lepelley 11 Virginie Levrat 12 Isabelle Melki 13 Pierre Meyer 14, 15 Marie-Christine Nougues 10 Florence Renaldo 16 Mathieu Rodéro 11 Diana Rodriguez 17 Agathe Roubertie 15 Luis Seabra 11 Carolina Uggenti 18 Hendy Abdoul 2 Jean-Marc Tréluyer 2 Isabelle Desguerre 3 Stéphane Blanche 3 Yanick Crow 18, *
Abstract : To the Editor: The Aicardi–Goutières syndrome is a genetic encephalopathy that is associated with childhood illness and death. The syndrome is hypothesized to be due to misidentification of self-derived nucleic acids as nonself and the subsequent induction of a type I interferon–mediated response that simulates an antiviral reaction.1 Endogenous retroelements, mobile genetic elements that can be transcribed to RNA and then to DNA by reverse transcription, constitute 40% of the human genome and represent a potential source of immunostimulatory nucleic acid in patients with this syndrome.2
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https://hal-pasteur.archives-ouvertes.fr/pasteur-01974160
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Submitted on : Tuesday, January 8, 2019 - 4:02:17 PM
Last modification on : Wednesday, August 19, 2020 - 11:18:37 AM

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Gillian Rice, Candice Meyzer, Naïm Bouazza, Marie Hully, Nathalie Boddaert, et al.. Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome. New England Journal of Medicine, Massachusetts Medical Society, 2018, 379 (23), pp.2275-2277. ⟨10.1056/NEJMc1810983⟩. ⟨pasteur-01974160⟩

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