Caso Francesco, Cantarini Luca, Lucherini Orso Maria, Sfriso Paolo, Fioretti Maria, Costa Luisa, Vitale Antonio, Atteno Mariangela, Galeazzi Mauro, Muscari Isabella, Magnotti Flora, Frediani Bruno, Punzi Leonardo, Rigante Donato
Rheumatology Unit, Department of Medicine, University of Padua , Padua , Italy.
Mod Rheumatol. 2014 May;24(3):381-9. doi: 10.3109/14397595.2013.843755. Epub 2013 Oct 18.
Hereditary autoinflammatory disorders encompass manifold dysfunctions of innate immunity caused by mutations in genes coding for the main characters of the inflammatory scene: most of these conditions have an early onset, ranging from the first days of life to the first decades, and include hereditary periodic fevers, NLRP-related diseases, granulomatous and pyogenic syndromes, which are basically characterized by upturned inflammasome activity and overproduction of bioactive interleukin (IL)-1β and other proinflammatory cytokines. The discovery of a causative link between autoinflammation and IL-1β release has improved our understanding of the intimate mechanisms of innate immunity, and has likewise led to the identification of extraordinary treatments for many of these disorders.
这些病症大多起病较早，从生命的最初几天到最初几十年不等，包括遗传性周期性发热、NLRP相关疾病、肉芽肿性和化脓性综合征，其基本特征是炎性小体活性升高以及生物活性白细胞介素（IL）-1β和其他促炎细胞因子过度产生。自身炎症与IL-1β释放之间因果关系的发现，增进了我们对先天性免疫内在机制的理解，同样也促成了针对其中许多病症的特殊治疗方法的确定。
