Therapies in Aicardi-Goutières syndrome

Y. J. Crow, A. Vanderver, S. Orcesi, T. W. Kuijpers, G. I. Rice

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)1-8
Number of pages8
JournalClinical and Experimental Immunology
Volume175
Issue number1
DOIs
Publication statusPublished - Jan 2014

Fingerprint

Aicardi Syndrome
Interferon Type I
Therapeutics
Cell Biology
Molecular Biology
Pathology
Morbidity
Phenotype
Skin
Mortality
Brain
Proteins

Keywords

  • Aicardi-Goutières syndrome
  • Anti-interferon antibodies
  • Interferonopathy
  • Reverse transcriptase inhibitors
  • Type I interferon

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy

Cite this

Crow, Y. J., Vanderver, A., Orcesi, S., Kuijpers, T. W., & Rice, G. I. (2014). Therapies in Aicardi-Goutières syndrome. Clinical and Experimental Immunology, 175(1), 1-8. https://doi.org/10.1111/cei.12115

Therapies in Aicardi-Goutières syndrome. / Crow, Y. J.; Vanderver, A.; Orcesi, S.; Kuijpers, T. W.; Rice, G. I.

In: Clinical and Experimental Immunology, Vol. 175, No. 1, 01.2014, p. 1-8.

Research output: Contribution to journalArticle

Crow, YJ, Vanderver, A, Orcesi, S, Kuijpers, TW & Rice, GI 2014, 'Therapies in Aicardi-Goutières syndrome', Clinical and Experimental Immunology, vol. 175, no. 1, pp. 1-8. https://doi.org/10.1111/cei.12115
Crow, Y. J. ; Vanderver, A. ; Orcesi, S. ; Kuijpers, T. W. ; Rice, G. I. / Therapies in Aicardi-Goutières syndrome. In: Clinical and Experimental Immunology. 2014 ; Vol. 175, No. 1. pp. 1-8.
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