Therapies in Aicardi-Goutieres syndrome

被引：72

作者：

Crow, Y. J. ^{[1
,2
]}

Vanderver, A. ^{[3
]}

Orcesi, S. ^{[4
]}

Kuijpers, T. W. ^{[5
]}

Rice, G. I. ^{[1
,2
]}

机构：

[1] Univ Manchester, Inst Human Dev, Fac Med & Human Sci, Manchester, Lancs, England

[2] Cent Manchester Univ Hosp NHS Fdn Trust, St Marys Hosp, Manchester Acad Hlth Sci Ctr, Manchester, Lancs, England

[3] Childrens Natl Med Ctr, Dept Neurol, Washington, DC 20010 USA

[4] IRCCS, Child Neurol & Psychiat Unit, C Mondino Natl Inst Neurol Fdn, Pavia, Italy

[5] Univ Amsterdam, Acad Med Ctr, Dept Expt Immunol, Amsterdam, Netherlands

来源：

CLINICAL AND EXPERIMENTAL IMMUNOLOGY | 2014年 / 175卷 / 01期

关键词：

Aicardi-Goutieres syndrome; anti-interferon antibodies; interferonopathy; reverse transcriptase inhibitors; type I interferon; FAMILIAL CHILBLAIN LUPUS; CEREBROSPINAL-FLUID LYMPHOCYTOSIS; INNATE IMMUNE-RESPONSE; AUTOIMMUNE-DISEASE; CEREBRAL VASCULOPATHY; P.ASP18ASN MUTATION; HIV-1; INFECTION; BASAL GANGLIA; HUMAN GENOMES; SAMHD1;

D O I：

10.1111/cei.12115

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

071005 [微生物学]; 100108 [医学免疫学];

摘要：

Aicardi-Goutieres 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.

引用

页码：1 / 8

页数：8

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