Ida Hiroaki, Eguchi Katsumi
First Department of Internal Medicine, Graduate School of Biomedical Sciences, Nagasaki University.
Nihon Rinsho. 2009 Mar;67(3):626-36.
The autoinflammatory syndromes include a group of inherited diseases that are characterized by 1) seemingly unprovoked episodes of systemic inflammations, 2) absence of high titer of autoantibody or auto-reactive T cell, and 3) inborn error of innate immunity. In this article, we will focus on the clinical features, the pathogenesis related the genetic defects, and the therapeutic strategies in the representative disorders including familial Mediterranean fever (FMF), TNF receptor associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), hyper-IgD with periodic fever syndrome (HIDS), syndrome of pyogenic arthritis with pyoderma gangrenosum and acne (PAPA), and Blau syndrome. Recent advances in genetics and molecular biology have proceeded our understanding of the pathogenesis of autoinflammatory syndromes.
自身炎症性综合征包括一组遗传性疾病，其特征为：1）看似无端发作的全身性炎症；2）缺乏高滴度自身抗体或自身反应性T细胞；3）先天性免疫缺陷。在本文中，我们将重点关注代表性疾病的临床特征、与基因缺陷相关的发病机制以及治疗策略，这些疾病包括家族性地中海热（FMF）、肿瘤坏死因子受体相关周期性综合征（TRAPS）、冷吡啉相关周期性综合征（CAPS）、高IgD伴周期性发热综合征（HIDS）、化脓性关节炎伴坏疽性脓皮病和痤疮综合征（PAPA）以及布劳综合征。遗传学和分子生物学的最新进展加深了我们对自身炎症性综合征发病机制的理解。
