The prototypical interferonopathy: Aicardi-Goutières syndrome from bedside to bench.
Aicardi‐Goutieres
Type I interferon
cytokines
inflammation
interferonopathy
leukodystrophy
neuroimmunology
Journal
Immunological reviews
ISSN: 1600-065X
Titre abrégé: Immunol Rev
Pays: England
ID NLM: 7702118
Informations de publication
Date de publication:
29 Oct 2024
29 Oct 2024
Historique:
medline:
30
10
2024
pubmed:
30
10
2024
entrez:
30
10
2024
Statut:
aheadofprint
Résumé
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.
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NINDS NIH HHS
ID : NS065745
Pays : United States
Organisme : NINDS NIH HHS
ID : NS126452
Pays : United States
Organisme : NINDS NIH HHS
ID : R01NS134651
Pays : United States
Organisme : NINDS NIH HHS
ID : R01NS131480
Pays : United States
Organisme : NINDS NIH HHS
ID : R21NS123477
Pays : United States
Organisme : NINDS NIH HHS
ID : U01NS106845
Pays : United States
Organisme : NINDS NIH HHS
ID : U54NS15052
Pays : United States
Organisme : Clayco Foundation
Organisme : Common Fund
ID : DP5-OD036159
Organisme : National Institute of Allergy and Infectious Diseases
ID : AI143982
Organisme : National Institute of Allergy and Infectious Diseases
ID : R01AI139544
Organisme : National Health and Medical Research Council
ID : Ideas Grant APP2001543
Informations de copyright
© 2024 The Author(s). Immunological Reviews published by John Wiley & Sons Ltd.
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