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, p....

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7241420/
https://www.ncbi.nlm.nih.gov/pubmed/32477355
http://dx.doi.org/10.3389/fimmu.2020.00877

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