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

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

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...

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Main Authors: Katerina Theodoropoulou, Helmut Wittkowski, Nathalie Busso, Annette Von Scheven-Gête, Isabelle Moix, Federica Vanoni, Veronique Hengten, Gerd Horneff, Johannes-Peter Haas, Nadine Fischer, Katharina Palm-Beden, Rainer Berendes, Georg Heubner, Annette Jansson, Elke Lainka, Annette Leimgruber, Michael Morris, Dirk Foell, Michaël Hofer
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-05-01
Series:Frontiers in Immunology
Subjects:
Q703K
NLRP3
PFAPA
CAPS
autoinflammation
autoinflammatory diseases
Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2020.00877/full

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https://www.frontiersin.org/article/10.3389/fimmu.2020.00877/full

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