Increased Prevalence of NLRP3 Q703K Variant Among Patients With Autoinflammatory Diseases: An International Multicentric Study.

doi:10.3389/fimmu.2020.00877

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Article

Increased Prevalence of NLRP3 Q703K Variant Among Patients With Autoinflammatory Diseases: An International Multicentric Study.

Frontiers in immunology - 1 Jan 2020

Theodoropoulou Katerina, Wittkowski Helmut, Busso Nathalie, Von Scheven-Gête Annette, Moix Isabelle, Vanoni Federica, Hengten Veronique, Horneff Gerd, Haas Johannes-Peter, Fischer Nadine, Palm-Beden Katharina, Berendes Rainer, Heubner Georg, Jansson Annette, Lainka Elke, Leimgruber Annette, Morris Michael, Foell Dirk, Hofer Michaël

Abstract excerpt

Background: The NLRP3 inflammasome has been recognized as one of the key components of innate immunity. Gain-of-function mutations in the exon 3 of NLRP3 gene have been implicated in inflammatory diseases suggesting the presence of functionally important sites in this region. Q703K (c.2107C>A, p.Gln703Lys, also known in the literature as Q705K) is a common variant of NLRP3, that has been considered to be both...

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PMID: 32477355
DOI: 10.3389/fimmu.2020.00877
PMCID: PMC7241420

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