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Article

Atypical hemolytic uremic syndrome associated with a factor B genetic variant and fluid-phase complement activation: an exception to the rule?

Kidney international - 1 Nov 2020

Noris Marina, Remuzzi Giuseppe

Abstract excerpt

Gain-of-function variants in CFB encoding factor B (FB), a component of the alternative pathway C3 convertase, have been reported in a minority of patients with aHUS and result in massive C3 activation. Zhang et al. describe the functional characterization of a novel FB variant (p.Ser367Arg) that they identified in 2 unrelated aHUS pedigrees who had undetectable C3 levels. The mutant FB caused strong C3 cleavage...

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Identifiers

PMID: 33126970
DOI: 10.1016/j.kint.2020.06.026

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