Abstract:

Autoinflammatory syndromes are conditions caused by mutations of proteins，playing a important role in the regulation of the innate immunity，which leads to an uncontrolled inflammation. The understanding of the molecular mechanisms in these disorders discloses new molecular therapeutic targets. The good response to anti IL-1 drugs in cryopyrin-associated periodic syndromes（CAPS） is the brightest example of the possibility to dampen inflammation with the blockade of a single cytokine，and IL-1 blockers have been used in the treatments of systemic juvenile idiopathic arthritis（sJIA），tumor necrosis factor（TNF） receptor-associated periodic syndrome（TRAPS） and familial Mediterranean fever（FMF）. Anti-TNF are needed in the control of long-term fever in TNF receptor-associated periodic syndrome，and anti-TNF agents are also useful in FMF with AA amyloidosis. Anti-TNF agents are the most common treatment for Blau syndrome，which relieve the joint symptoms. Many studies have demonstrated significant efficacy of anti IL-6 drugs in patients with sJIA. Due to their extreme rarity，there are few case reports on the response to anti IL-6 drugs in other autoinflammatory diseases.

Key words: autoinflammatory syndromes, IL-6 blocker, TNF-receptor blocker, IL-1 blocker

摘要：

自身炎症性疾病是由于调节固有免疫系统重要蛋白突变引起无法控制的炎性反应综合征的总称。对于该类疾病分子机制的深入揭示使得生物制剂的应用成为可能。白介素（IL）-1受体拮抗剂在冷炎素相关周期性综合征中的成功应用是选择性阻断单一细胞因子消除炎性反应最好的例子，并且IL-1拮抗剂目前已用于幼年特发性关节炎（JIA）、肿瘤坏死因子（TNF）受体相关周期性综合征及家族性地中海热等自身炎症性疾病。TNF抑制剂用于TNF受体相关周期性综合征的发热，亦可使家族性地中海热合并淀粉样变的患者获益。TNF-α抑制剂是Blau综合征最常用的治疗，有助于控制关节病变。IL-6受体拮抗剂用于全身型JIA，可明显缓解关节症状，其在TNF受体相关周期性综合征及家族性地中海热中的应用也有个例报道。

关键词: 自身炎症性疾病, 白介素-6受体拮抗剂, 肿瘤坏死因子受体拮抗剂, 白介素-1受体拮抗剂