Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome
Open accessAbstract
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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A clinical trial with NRTIs produced promising results in AGS.
“however, a clinical trial with NRTIs produced promising results124.”
From The role of retrotransposable elements in ageing and age-associated diseases (2021) · cites this paper as [124]
NRTIs have shown early therapeutic promise.
“In terms of potential therapy, NRTIs have showed early promise124.”
From The role of retrotransposable elements in ageing and age-associated diseases (2021) · cites this paper as [124]
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References 12 · Cited by 153
- Authors
- Rice, G. I., Meyzer, C., Bouazza, N., Hully, M., Boddaert, N., Semeraro, M., Zeef, L. A. H., Rozenberg, F., Bondet, V., Duffy, D., Llibre, A., Baek, J., Sambe, M. N., Henry, E., Jolaine, V., Barnerias, C., Barth, M., Belot, A., Cances, C., Debray, F.-G., Doummar, D., Frémond, M.-L., Kitabayashi, N., Lepelley, A., Levrat, V., Melki, I., Meyer, P., Nougues, M.-C., Renaldo, F., Rodero, M. P., Rodriguez, D., Roubertie, A., Seabra, L., Uggenti, C., Abdoul, H., Treluyer, J.-M., Desguerre, I., Blanche, S., & Crow, Y. J.
- Affiliations
- University of Manchester (GB)
- Assistance Publique – Hôpitaux de Paris (FR)
- Hôpital Necker-Enfants Malades (FR)
- Université Paris Descartes, Paris, France
- Université Paris Descartes (FR)
- Institut Pasteur (FR)
- Assistance Publique–Hôpitaux de Paris, Paris, France
- Hôpital Necker–Enfants Malades, Paris, France
- Centre Hospitalier Universitaire d'Angers (FR)
- University of Lyon, Lyon, France
- Centre Hospitalier Universitaire Toulouse, Toulouse, France
- University of Liège (BE)
- Hôpital Armand-Trousseau (FR)
- Institut des Maladies Génétiques Imagine (FR)
- Centre Hospitalier Annecy Genevois (FR)
- Hôpital Robert-Debré (FR)
- Université de Montpellier (FR)
- Hôpital Armand Trousseau, Paris, France
- Sorbonne Université (FR)
- Centre Hospitalier Universitaire de Montpellier (FR)
- Institut Imagine, Paris, France
- University of Edinburgh (GB)
- ORCID
- Rice, Gillian I.
- Bouazza, Naïm
- Hully, Marie
- Boddaert, Nathalie
- Zeef, Leo A.H.
- Rozenberg, Flore
- Bondet, Vincent
- Duffy, Darragh
- Llibre, Alba
- Barth, Magalie
- Doummar, Diane
- Frémond, Marie-Louise
- Lepelley, Alice
- Melki, Isabelle
- Meyer, Pierre
- Renaldo, Florence
- Rodero, Mathieu P.
- Rodriguez, Diana
- Roubertie, Agathe
- Uggenti, Carolina
- Abdoul, Hendy
- Desguerre, Isabelle
- Blanche, Stéphane
- Crow, Yanick J.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2018-12-06
- Volume
- 379
- Issue
- 23
- Pages
- 2275-2277
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2902054717
- Cited by
- 153
- References
- 12
- Citations by year
- 2026: 7 · 2025: 17 · 2024: 21 · 2023: 31 · 2022: 15 · 2021: 19 · 2020: 21 · 2019: 21
- FWCI
- 11.59
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Research Explorer (The University of Manchester) (publishedVersion)
- HAL (submittedVersion)
- HAL (submittedVersion, other-oa)
- Open Repository and Bibliography (University of Liège) (submittedVersion, other-oa)
- Edinburgh Research Explorer (University of Edinburgh) (submittedVersion, other-oa)
- Funders
- H2020 European Research Council (GA 309449 and 786142 (E-T1IFNs))
- Association Européenne contre les Leucodystrophies (ELA 2012-008l1)
- Agence Nationale de la Recherche (ANR-10-IAHU-01 and CE17001002)
- ERA-NET Neuron (MR/M501803/1)
- Topics
- Health Sciences › Medicine › Infectious Diseases › HIV/AIDS drug development and treatment
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Health Sciences › Medicine › Hematology › Autoimmune and Inflammatory Disorders Research
- Keywords
- Aicardi-Goutières syndrome, reverse transcriptase inhibitors, antiviral therapy, interferon lambda, interferon lambda receptor, autoinflammatory disease
- MeSH terms
- Abacavir, Cerebrovascular Circulation, Drug Combinations, France, Humans, Interferons, Nervous System Malformations, Pilot Projects, Zidovudine, Dideoxynucleosides, Gene Expression, Reverse Transcriptase Inhibitors, Lamivudine, Autoimmune Diseases of the Nervous System
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