title: NLR in Human Diseases: Role and Laboratory Findings.
abstract: Autoinflammatory diseases are a group of inherited and multifactorial disorders characterized by an overactivation 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, and 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 O2 tension) or gene transfection in continuous cell lines that may lead to artifacts.
authors.affiliation: Cell Biology Unit, IRCCS Azienda Ospedaliera Universitaria San Martino-IST, Genoa, Italy.
authors.forename: Sonia
authors.initials: S
authors.lastname: Carta
authors.affiliation: UO Pediatria 2, Istituto G. Gaslini, Genoa, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Gattorno
authors.affiliation: Cell Biology Unit, IRCCS Azienda Ospedaliera Universitaria San Martino-IST, Genoa, Italy. anna.rubartelli@hsanmartino.it.
authors.forename: Anna
authors.initials: A
authors.lastname: Rubartelli
mesh_terms: D000255:Adenosine Triphosphate / Q000378:metabolism; D002478:Cells, Cultured; D056660:Hereditary Autoinflammatory Diseases / Q000276:immunology* / Q000378:metabolism; D006801:Humans; D007375:Interleukin-1 / Q000378:metabolism*; D009000:Monocytes / Q000166:cytology / Q000276:immunology; D000070576:NLR Proteins / Q000235:genetics / Q000378:metabolism*; D017382:Reactive Oxygen Species / Q000378:metabolism
chemical_list: D007375:Interleukin-1; D000070576:NLR Proteins; D017382:Reactive Oxygen Species; D000255:Adenosine Triphosphate
keywords: ATP; Autoinflammatory diseases; IL-1β secretion; Primary monocytes; Redox