Therapies in Aicardi–Goutières syndrome. (3rd December 2013)

• Record Type: Journal Article
• Authors: Crow, Y J; Vanderver, A; Orcesi, S; Kuijpers, T W; Rice, G I
• Is Part Of: Clinical and experimental immunology. Volume 175:Number 1(2014:Jan.)
• Page Start: 1
• Page End: 8
• Publication Date: 2013-12-03
• Subjects: Aicardi–Goutières syndrome -- anti-interferon antibodies -- interferonopathy -- reverse transcriptase inhibitors -- type I interferon; Immunopathology -- Periodicals; 616.079
• DOI: 10.1111/cei.12115
• Languages: English
• ISSNs: 0009-9104

Abstract

Summary: 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.