The prototypical interferonopathy: Aicardi-Goutières syndrome from bedside to bench.

Autor: Hofer MJ; Charles Perkins Centre and School of Life and Environmental Sciences, The University of Sydney, New South Wales, Australia., Modesti N; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Coufal NG; Department of Pediatrics, University of California, San Diego, California, USA.; Rady Children's Hospital, San Diego, California, USA.; Sanford Consortium for Regenerative Medicine, San Diego, California, USA., Wang Q; Department of Surgery, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA., Sase S; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Miner JJ; Department of Medicine and Microbiology, RVCL Research Center, and Colton Center for Autoimmunity, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Vanderver A; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Bennett ML; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Jazyk: angličtina
Zdroj: Immunological reviews [Immunol Rev] 2024 Oct; Vol. 327 (1), pp. 83-99. Date of Electronic Publication: 2024 Oct 29.
DOI: 10.1111/imr.13413
Abstrakt: Aicardi-Goutières syndrome (AGS) is a progressive genetic encephalopathy caused by pathogenic mutations in genes controlling cellular anti-viral responses and nucleic acid metabolism. The mutations initiate autoinflammatory processes in the brain and systemically that are triggered by chronic overproduction of type I interferon (IFN), including IFN-alpha. Emerging disease-directed therapies aim to dampen autoinflammation and block cellular responses to IFN production, creating an urgent and unmet need to understand better which cells, compartments, and mechanisms underlying disease pathogenesis. In this review, we highlight existing pre-clinical models of AGS and our current understanding of how causative genetic mutations promote disease in AGS, to promote new model development and a continued focus on improving and directing future therapies.
(© 2024 The Author(s). Immunological Reviews published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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