Article
Complement factor B mutations in atypical hemolytic uremic syndrome-disease-relevant or benign?
Journal of the American Society of Nephrology : JASN - 1 Sept 2014
Marinozzi Maria Chiara, Vergoz Laura, Rybkine Tania, Ngo Stephanie, Bettoni Serena, Pashov Anastas, Cayla Mathieu, Tabarin Fanny, Jablonski Mathieu, Hue Christophe, Smith Richard J, Noris Marina, Halbwachs-Mecarelli Lise, Donadelli Roberta, Fremeaux-Bacchi Veronique, Roumenina Lubka T
Abstract excerpt
Atypical hemolytic uremic syndrome (aHUS) is a genetic ultrarare renal disease associated with overactivation of the alternative pathway of complement. Four gain-of-function mutations that form a hyperactive or deregulated C3 convertase have been identified in Factor B (FB) ligand binding sites. Here, we studied the functional consequences of 10 FB genetic changes recently identified from different aHUS cohorts....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.