Division of Pediatric Allergy, Immunology, and Rheumatology, Rady Children's Hospital of San Diego, University of California, San Diego, San Diego, CA, USA.
J Clin Immunol. 2019 Apr;39(3):277-286. doi: 10.1007/s10875-019-00638-z. Epub 2019 May 10.
Cryopyrin-associated periodic syndrome (CAPS) is a rare inherited autoinflammatory disorder characterized by systemic, cutaneous, musculoskeletal, and central nervous system inflammation. Gain-of-function mutations in NLRP3 in CAPS patients lead to activation of the cryopyrin inflammasome, resulting in the inappropriate release of inflammatory cytokines including IL-1β and CAPS-related inflammatory symptoms. Several mechanisms have been identified that are important for the normal regulation of the cryopyrin inflammasome in order to prevent uncontrolled inflammation. Investigators have taken advantage of some of these pathways to develop and apply novel targeted therapies, which have resulted in improved quality of life for patients with this orphan disease.
Cryopyrin 相关周期性综合征（CAPS）是一种罕见的遗传性自身炎症性疾病，其特征为全身、皮肤、肌肉骨骼和中枢神经系统炎症。CAPS 患者 NLRP3 的功能获得性突变导致 cryopyrin 炎性小体的激活，导致包括 IL-1β在内的炎症细胞因子的异常释放和 CAPS 相关炎症症状。已经确定了一些对 cryopyrin 炎性小体的正常调节非常重要的机制，以防止失控的炎症。研究人员利用其中一些途径开发和应用新型靶向治疗方法，从而提高了这种孤儿病患者的生活质量。
