Cell Biology Unit, IRCCS Azienda Ospedaliera Universitaria San Martino-IST, Genoa, Italy.
UO Pediatria 2, Istituto G. Gaslini, Genova, Italy.
Methods Mol Biol. 2023;2696:115-122. doi: 10.1007/978-1-0716-3350-2_8.
Autoinflammatory diseases are a group of inherited and multifactorial disorders characterized by an over-activation of innate immune response. In most cases, the clinical manifestations are due to increased activity of the NLRP3 inflammasome resulting in increased IL-1β secretion. Investigating inflammatory cells from subjects affected by autoinflammatory diseases presents a number of technical difficulties related to the rarity of the diseases, to the young age of most patients, to the difficult modulation of gene expression in primary cells. However, since cell stress is involved in the pathophysiology of these diseases, the study of freshly drawn blood monocytes from patients affected by IL-1-mediated diseases strongly increases the chances that the observed phenomena is indeed pertinent to the pathogenesis of the disease and not influenced by the long-term cell culture conditions (e.g., the high O tension) or gene transfection in continuous cell lines that may lead to artifacts.
自身炎症性疾病是一组遗传性和多因素疾病，其特征为先天免疫反应过度激活。在大多数情况下，临床表现是由于 NLRP3 炎性小体活性增加导致 IL-1β 分泌增加。研究受自身炎症性疾病影响的炎症细胞存在许多技术难题，这些疾病的罕见性、大多数患者的年轻年龄、原代细胞中基因表达的难以调节等都增加了难度。然而，由于细胞应激参与了这些疾病的病理生理学过程，因此从受 IL-1 介导疾病影响的患者中提取新鲜血液单核细胞进行研究，大大增加了所观察到的现象与疾病发病机制确实相关的可能性，而不受长期细胞培养条件（例如高氧张力）或连续细胞系中转染基因的影响，这些条件可能会导致假象。
