NLR in human diseases: Role and laboratory findings

Sonia Carta, Marco Gattorno, Anna Rubartelli

Research output: Chapter in Book/Report/Conference proceedingChapter


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.

Original languageEnglish
Title of host publicationMethods in Molecular Biology
PublisherHumana Press Inc.
Number of pages8
Publication statusPublished - 2016

Publication series

NameMethods in Molecular Biology
ISSN (Print)10643745


  • ATP
  • Autoinflammatory diseases
  • IL-1β secretion
  • Primary monocytes
  • Redox

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics


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