title: Therapies in Aicardi-Goutières syndrome.
abstract: Aicardi-Goutières syndrome (AGS) is a genetically determined disorder, affecting most particularly the brain and the skin, characterized by the inappropriate induction of a type I interferon-mediated immune response. In most, but not all, cases the condition is severe, with a high associated morbidity and mortality. A number of important recent advances have helped to elucidate the biology of the AGS-related proteins, thus providing considerable insight into disease pathology. In this study, we outline the clinical phenotype of AGS, paying particular attention to factors relevant to therapeutic intervention. We then discuss the pathogenesis of AGS from a molecular and cell biology perspective. Finally, we suggest possible treatment strategies in light of these emerging insights.
authors.affiliation: Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK; St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
authors.forename: Y J
authors.initials: YJ
authors.lastname: Crow
authors.forename: A
authors.initials: A
authors.lastname: Vanderver
authors.forename: S
authors.initials: S
authors.lastname: Orcesi
authors.forename: T W
authors.initials: TW
authors.lastname: Kuijpers
authors.forename: G I
authors.initials: GI
authors.lastname: Rice
mesh_terms: D020274:Autoimmune Diseases of the Nervous System / Q000235:genetics / Q000276:immunology / Q000473:pathology / Q000628:therapy; D006801:Humans; D007370:Interferon Type I / Q000235:genetics / Q000276:immunology; D009421:Nervous System Malformations / Q000235:genetics / Q000276:immunology / Q000473:pathology / Q000628:therapy
chemical_list: D007370:Interferon Type I
keywords: Aicardi-Goutières syndrome; anti-interferon antibodies; interferonopathy; reverse transcriptase inhibitors; type I interferon