Genetic associations in type I interferon related pathways with autoimmunity.
Genetic associations in type I interferon related pathways with autoimmunity.
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DOI：
10.1186/ar2883
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发表时间：
2010
影响因子：
4.9
通讯作者：
Kozyrev SV
中科院分区：
文献类型：
--
作者：
Delgado-Vega AM;Alarcón-Riquelme ME;Kozyrev SV
I型干扰素通过增强树突状细胞功能、诱导单核细胞分化、促进B细胞免疫球蛋白类转换和刺激T细胞效应功能，在先天免疫和适应性免疫中发挥着突出的作用。浆细胞样树突状细胞增加IFNα/β的产生不仅可能是有效的抗病毒防御的原因，而且可能是各种自身免疫性疾病发展的病理因素。I型干扰素与自身免疫性疾病之间存在遗传联系的第一个证据是，在系统性红斑狼疮患者的血清中经常检测到IFNα活性升高，并且这一特征在其一级健康亲属中显示出高遗传性和家族聚集性。迄今为止，许多参与干扰素信号传导的基因与各种自身免疫性疾病有关。系统性红斑狼疮、Sjögren综合征、皮肌炎、牛皮癣和部分类风湿关节炎患者的白细胞中表现出干扰素依赖基因的特定表达模式，称为干扰素特征。在这里，为了了解I型干扰素在自身免疫发病机制中的作用，我们回顾了自身免疫性疾病遗传学的最新进展，重点关注I型干扰素通路相关基因。
Type I interferons play an outstanding role in innate and adaptive immunity by enhancing functions of dendritic cells, inducing differentiation of monocytes, promoting immunoglobulin class switching in B cells and stimulating effector functions of T cells. The increased production of IFNα/β by plasmacytoid dendritic cells could be responsible for not only efficient antiviral defence, but it also may be a pathological factor in the development of various autoimmune disorders. The first evidence of a genetic link between type I interferons and autoimmune diseases was the observation that elevated IFNα activity is frequently detected in the sera of patients with systemic lupus erythematosus, and that this trait shows high heritability and familial aggregation in their first-degree healthy relatives. To date, a number of genes involved in interferon signalling have been associated with various autoimmune diseases. Patients with systemic lupus erythematosus, Sjögren's syndrome, dermatomyositis, psoriasis, and a fraction of patients with rheumatoid arthritis display a specific expression pattern of interferon-dependent genes in their leukocytes, termed the interferon signature. Here, in an attempt to understand the role of type I interferons in the pathogenesis of autoimmunity, we review the recent advances in the genetics of autoimmune diseases focusing on the association of genes involved in type I interferon pathways.
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影响因子：
27.4
作者：
Abelson AK;Delgado-Vega AM;Kozyrev SV;Sánchez E;Velázquez-Cruz R;Eriksson N;Wojcik J;Linga Reddy MV;Lima G;D'Alfonso S;Migliaresi S;Baca V;Orozco L;Witte T;Ortego-Centeno N;AADEA group;Abderrahim H;Pons-Estel BA;Gutiérrez C;Suárez A;González-Escribano MF;Martin J;Alarcón-Riquelme ME
通讯作者：
Alarcón-Riquelme ME
DOI：
10.1038/ejhg.2009.41
发表时间：
2009-10
期刊：
European journal of human genetics : EJHG
影响因子：
--
作者：
通讯作者：
--
影响因子：
30.5
作者：
Buerckstuemmer, Tilmann;Baumann, Christoph;Superti-Furga, Giulio
通讯作者：
Superti-Furga, Giulio
影响因子：
3.2
作者：
Castiblanco, John;Varela, Diana-Cristina;Anaya, Juan-Manuel
通讯作者：
Anaya, Juan-Manuel
影响因子：
19.6
作者：
Cowley, BD;Ricardo, SD;Diamond, JR
通讯作者：
Diamond, JR