Laboratoire de Génétique des Maladies Rares et Autoinflammatoires (Reference Center), Hôpital Arnaud de Villeneuve, 34295, Montpellier Cedex 5, France.
Semin Immunopathol. 2015 Jul;37(4):359-62. doi: 10.1007/s00281-015-0495-3. Epub 2015 May 22.
Monogenic autoinflammatory diseases are defined as a group of conditions with a clinical and biological inflammatory syndrome but little or no evidence of autoimmunity. Over 17 years have passed since the discovery of the first autoinflammatory gene, MEFV, responsible for familial Mediterranean fever. Substantive progress has been made since then, highlighting the key role of the inflammasome in the maintenance of the cell homeostasis but also unravelling new pathophysiological pathways involved in these diseases. The history of autoinflammatory gene discovery demonstrates the powerfulness of next-generation sequencing approaches in linking inflammatory disorders with various overlapping phenotypes. It can be easily anticipated that new genes will be exponentially identified in the coming years. Integrating these new concepts should help to promote personalized patient care through novel therapeutic opportunities.
单基因自身炎症性疾病被定义为一组具有临床和生物学炎症综合征但几乎没有自身免疫证据的疾病。自第一个自身炎症基因 MEFV（家族性地中海热的致病基因）被发现以来，已经过去了 17 年。此后取得了实质性进展，突出了炎症小体在维持细胞内环境稳定中的关键作用，同时也揭示了这些疾病中涉及的新的病理生理途径。自身炎症基因发现的历史证明了下一代测序方法在将炎症性疾病与各种重叠表型联系起来的强大作用。可以预见，在未来几年内将指数级地发现新的基因。整合这些新概念应该有助于通过新的治疗机会促进个性化的患者护理。
