Therapies in Aicardi-Goutières syndrome

Yanick Crow; A. Vanderver; S. Orcesi; T. W. Kuijpers; G. I. Rice

doi:10.1111/cei.12115

Therapies in Aicardi-Goutières syndrome

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

Research output: Contribution to journal › Article › peer-review

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. © 2013 British Society for Immunology.

Original language	English
Pages (from-to)	1-8
Number of pages	7
Journal	Clinical and experimental immunology
Volume	175
Issue number	1
DOIs	https://doi.org/10.1111/cei.12115
Publication status	Published - Jan 2014

Keywords

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

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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title = "Therapies in Aicardi-Gouti{\`e}res syndrome",

abstract = "Aicardi-Gouti{\`e}res 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. {\textcopyright} 2013 British Society for Immunology.",

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author = "Yanick Crow and A. Vanderver and S. Orcesi and Kuijpers, {T. W.} and Rice, {G. I.}",

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T1 - Therapies in Aicardi-Goutières syndrome

AU - Crow, Yanick

AU - Vanderver, A.

AU - Orcesi, S.

AU - Kuijpers, T. W.

AU - Rice, G. I.

PY - 2014/1

Y1 - 2014/1

N2 - 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. © 2013 British Society for Immunology.

AB - 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. © 2013 British Society for Immunology.

KW - Aicardi-Goutières syndrome

KW - Anti-interferon antibodies

KW - Interferonopathy

KW - Reverse transcriptase inhibitors

KW - Type I interferon

U2 - 10.1111/cei.12115

DO - 10.1111/cei.12115

M3 - Article

C2 - 23607857

SN - 0009-9104

VL - 175

SP - 1

EP - 8

JO - Clinical and experimental immunology

JF - Clinical and experimental immunology

IS - 1

ER -

Therapies in Aicardi-Goutières syndrome

Abstract

Keywords

UN SDGs

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