Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*).
Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*).
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DOI：
10.1146/annurev.immunol.25.022106.141627
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发表时间：
2009
影响因子：
29.7
通讯作者：
Kastner DL
中科院分区：
文献类型：
--
作者：
Masters SL;Simon A;Aksentijevich I;Kastner DL
自身炎性疾病的特征在于似乎无端的炎症发作，没有高滴度自身抗体或抗原特异性T细胞。这个概念是在10年前提出的，当时发现了遗传性周期性发热综合征的基因。这种疾病分类学已经扎根，因为我们对孟德尔和复杂自身炎症性疾病的遗传基础的认识取得了巨大进展，并且认识到这些疾病来自先天免疫系统的遗传变异。在这里，我们提出了一个更新的分类方案的基础上，在过去十年中获得的分子见解，取代临床分类，已经很好地服务，但是不透明的遗传，免疫和治疗的相互关系，现在摆在我们面前。我们定义了六类自身炎症性疾病：IL-1β激活障碍（炎性疾病）、NF-κB激活综合征、蛋白质错误折叠障碍、补体调节性疾病、细胞因子信号传导紊乱和巨噬细胞激活综合征。基于分子病理生理学的系统将使我们的话语更加清晰，同时在实验室和床边催化新的假设。
The autoinflammatory diseases are characterized by seemingly unprovoked episodes of inflammation, without high-titer autoantibodies or antigen-specific T cells. The concept was proposed ten years ago with the identification of the genes underlying hereditary periodic fever syndromes. This nosology has taken root because of the dramatic advances in our knowledge of the genetic basis of both mendelian and complex autoinflammatory diseases, and with the recognition that these illnesses derive from genetic variants of the innate immune system. Herein we propose an updated classification scheme based on the molecular insights garnered over the past decade, supplanting a clinical classification that has served well but is opaque to the genetic, immunologic, and therapeutic interrelationships now before us. We define six categories of autoinflammatory disease: IL-1β activation disorders (inflammasomopathies), NF-κB activation syndromes, protein misfolding disorders, complement regulatory diseases, disturbances in cytokine signaling, and macrophage activation syndromes. A system based on molecular pathophysiology will bring greater clarity to our discourse while catalyzing new hypotheses both at the bench and at the bedside.
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DOI：
10.1084/jem.20030976
发表时间：
2004-01-05
期刊：
The Journal of experimental medicine
影响因子：
--
作者：
Badour K;Zhang J;Shi F;Leng Y;Collins M;Siminovitch KA
通讯作者：
Siminovitch KA
影响因子：
9.8
作者：
Aksentijevich, I;Galon, J;Kastner, DL
通讯作者：
Kastner, DL
影响因子：
20.3
作者：
Bryceson, Yenan T.;Rudd, Eva;Ljunggren, Hans-Gustaf
通讯作者：
Ljunggren, Hans-Gustaf
影响因子：
4.4
作者：
BYRD, L;GROSSMANN, M;SHENONG, GLC
通讯作者：
SHENONG, GLC
影响因子：
9.8
作者：
Cargill, Michele;Schrodi, Steven J.;Begovich, Ann B.
通讯作者：
Begovich, Ann B.