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首页> 外国专利> METHODS AND KITS FOR DIAGNOSIS OF FAMILIAL MEDITERRANEAN FEVER

METHODS AND KITS FOR DIAGNOSIS OF FAMILIAL MEDITERRANEAN FEVER

机译：诊断家族性地中海热的方法和试剂盒

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摘要

The present invention relates to a non-invasive, specific and rapid diagnostic method of Familial Mediterranean fever (FMF) in a subject said method comprising the step of measuring the level of cytokine (IL-18 or IL-1 beta) secreted by immune primary cells (or cell death level of these cells) obtained from said subject, which have been beforehand treated with a Protein Kinase C (PKC) inhibitor, and optionally beforehand treated with a NF-kB activator such as LPS. Inventors show based on the extensive study of the inflammasome process of the monocytes, that PKC superfamily inhibitors trigger inflammasome activation in monocytes from FMF patients while they are not sufficient to do so in monocytes from healthy donors (HD) or from patient having hyperimmunoglobulinemia D syndrome (HID S). Using cytokine release quantification or determination of real time cell death kinetics, inventors demonstrate that PKC superfamily inhibitors can discriminate FMF patients from HD or from patients with systemic inflammation from other aetiologies. These results thus set-up the basis for the development of a rapid functional specific diagnostic test for FMF. Methods of treatment are disclosed.
机译：本发明涉及家族性地中海热（FMF）的非侵入性，特异性和快速诊断方法，所述方法包括测量免疫原发性细胞分泌的细胞因子（IL-18或IL-1β）水平的步骤。从所述受试者获得的细胞（或这些细胞的细胞死亡水平），已经预先用蛋白激酶C（PKC）抑制剂处理过，并且任选地预先用NF-kB激活剂例如LPS处理过。发明人基于对单核细胞炎性过程的广泛研究表明，PKC超家族抑制剂可触发FMF患者单核细胞中的炎性体激活，而PKC超家族抑制剂不足以刺激健康供体（HD）或患有高免疫球蛋白D综合征患者的单核细胞中的炎性体活化。 （HID S）。使用细胞因子释放量化或实时细胞死亡动力学测定，发明人证明了PKC超家族抑制剂可将FMF患者与HD患者或与系统性炎症患者与其他病因区分开。因此，这些结果为开发针对FMF的快速功能特定诊断测试奠定了基础。公开了治疗方法。

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