Therapies in Aicardi–Goutières syndrome

Authors

  • Y. J. Crow,

    Corresponding author
    1. Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK
    2. St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK
    • Correspondence: Y. J. Crow, Genetic Medicine, 6th Floor, St Mary's Hospital, Oxford Road, Manchester M13 9WL, UK.

      E-mail: yanickcrow@mac.com

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    • On behalf of the NIMBL consortium.
  • A. Vanderver,

    1. Children's National Medical Center, Department of Neurology, Washington DC, USA
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  • S. Orcesi,

    1. Child Neurology and Psychiatry Unit, C. Mondino National Institute of Neurology Foundation, IRCCS, Pavia, Italy
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  • T. W. Kuijpers,

    1. Department of Experimental Immunology, Academic Medical Centre, University of Amsterdam (UvA), Amsterdam, the Netherlands
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  • G. I. Rice

    1. Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK
    2. St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK
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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.

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