Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

Gillian Rice; Candice Meyzer; Naïm Bouazza; Marie Hully; Nathalie Boddaert; Michaela Semeraro; Leo A.H Zeef; Flore Rozenberg; Vincent Bondet; Darragh Duffy; Alba Llibre; Jinmi Baek; Mame Sambe; Elodie Henry; Valerie Jolaine; Christine Barnerias; Magalie Barth; Alexandre Belot; Claude Cances; François-Guillaume Debray; Diane Doummar; Marie-Louise Fremond; Naoki Kitabayashi; Alice Lepelley; Virginie Levrat; Isabelle Melki; Pierre Meyer; Marie-Christine Nougues; Florence Renaldo; Mathieu Rodéro; Diana Rodriguez; Agathe Roubertie; Luis Seabra; Carolina Uggenti; Hendy Abdoul; Jean-Marc Tréluyer; Isabelle Desguerre; Stéphane Blanche; Yanick Crow

doi:10.1056/NEJMc1810983

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Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

Journal article

Open access

Peer reviewed

Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

Gillian Rice, Candice Meyzer, Naïm Bouazza, Marie Hully, Nathalie Boddaert, Michaela Semeraro, Leo A.H Zeef, Flore Rozenberg, Vincent Bondet, Darragh Duffy, …

New England Journal of Medicine, Vol.379(23), pp.2275-2277

06/12/2018

DOI: https://doi.org/10.1056/NEJMc1810983

PMID: 30566312

Abstract

Autoimmune Diseases of the Nervous System

Cerebrovascular Circulation

Interferons

Lamivudine

Nervous System Malformations

Pilot Projects

Reverse Transcriptase Inhibitors

Zidovudine

Dideoxynucleosides

Drug Combinations

France

Gene Expression

Humans

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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Title: Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome
Creators - without role: Gillian Rice - University of Manchester
Candice Meyzer - Assistance Publique – Hôpitaux de Paris
Naïm Bouazza - Assistance Publique – Hôpitaux de Paris
Marie Hully - Hôpital Necker-Enfants Malades
Nathalie Boddaert - Hôpital Necker-Enfants Malades
Michaela Semeraro - Délégation Paris 5
Leo A.H Zeef - University of Manchester
Flore Rozenberg - Université Paris Cité
Vincent Bondet - Institut Pasteur
Darragh Duffy - Institut Pasteur
Alba Llibre - Institut Pasteur
Jinmi Baek - Assistance Publique – Hôpitaux de Paris
Mame Sambe - Assistance Publique – Hôpitaux de Paris
Elodie Henry - Assistance Publique – Hôpitaux de Paris
Valerie Jolaine - Assistance Publique – Hôpitaux de Paris
Christine Barnerias - Hôpital Necker-Enfants Malades
Magalie Barth - Centre Hospitalier Universitaire d'Angers
Alexandre Belot - Université Claude Bernard Lyon 1
Claude Cances - Centre Hospitalier Universitaire de Toulouse
François-Guillaume Debray - University of Liège
Diane Doummar - Sorbonne Université
Marie-Louise Fremond - Imagine - Institut des maladies génétiques
Naoki Kitabayashi - Institut des Maladies Génétiques Imagine
Alice Lepelley - Institut des Maladies Génétiques Imagine
Virginie Levrat - Centre Hospitalier Annecy Genevois
Isabelle Melki - Hôpital Robert-Debré
Pierre Meyer - Université de Montpellier, Physiologie et Médecine Expérimentale du coeur et des muscles - PhyMedExp
Marie-Christine Nougues - Charmo University
Florence Renaldo - Hôpital Robert-Debré
Mathieu Rodéro - Institut des Maladies Génétiques Imagine
Diana Rodriguez - Université Sorbonne Nouvelle
Agathe Roubertie - Centre Hospitalier Universitaire de Montpellier
Luis Seabra - Institut des Maladies Génétiques Imagine
Carolina Uggenti - University of Edinburgh
Hendy Abdoul - Assistance Publique – Hôpitaux de Paris
Jean-Marc Tréluyer - Assistance Publique – Hôpitaux de Paris
Isabelle Desguerre - Hôpital Necker-Enfants Malades
Stéphane Blanche - Hôpital Necker-Enfants Malades
Yanick Crow - University of Edinburgh
Publication Details: New England Journal of Medicine, Vol.379(23), pp.2275-2277
Grant note: Supported by grants from the European Leukodystrophy Association (ELA 2012-008l1), the European Research Council (GA 309449 and 786142-E-T1IFNs), ERA-NET Neuron (MR/M501803/1), and the French National Research Agency (ANR-10-IAHU-01 and CE17001002). Medications were provided by GlaxoSmithKline and ViiV Healthcare.
Identifiers: 9935314209311
Academic Unit: Physiologie et Médecine Expérimentale du coeur et des muscles - PhyMedExp
Language: English
Resource Type: Journal article
Local Fields: pasteur-01974160