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 A.H 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)

1 University of Manchester [Manchester]
2 AP-HP - Assistance publique - Hôpitaux de Paris (AP-HP)
3 Hôpital Necker - Enfants Malades [AP-HP]
4 UPD5 - Université Paris Descartes - Paris 5
5 IP - Institut Pasteur [Paris]
6 CHU Angers - Centre Hospitalier Universitaire d'Angers
7 Université de Lyon
8 CHU Toulouse - Centre Hospitalier Universitaire de Toulouse
9 Université de Liège
10 CHU Trousseau [APHP]
11 IMAGINE - U1163 - Imagine - Institut des maladies génétiques
12 Centre Hospitalier Annecy-Genevois [Saint-Julien-en-Genevois]
13 AP-HP Hôpital universitaire Robert-Debré [Paris]
14 PhyMedExp - Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046]
15 CHRU Montpellier - Centre Hospitalier Régional Universitaire [Montpellier]
16 Hôpital Robert Debré
17 SU - Sorbonne Université
18 Edin. - University of Edinburgh

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

Domaines: Immunologie

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, 2018, 379 (23), pp.2275-2277. ⟨10.1056/NEJMc1810983⟩. ⟨pasteur-01974160⟩