Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome

Veronique Frémeaux-Bacchi, Elizabeth C. Miller, M. Kathryn Liszewski, Lisa Strain, Jacques Blouin, Alison L. Brown, Nadeem Moghal, Bernard S. Kaplan, Robert A. Weiss, Karl Lhotta, Gaurav Kapur, Tej Mattoo, Hubert Nivet, William Wong, Sophie Gie, Bruno Hurault De Ligny, Michel Fischbach, Ritu Gupta, Richard Hauhart, Vincent MeunierChantal Loirat, Marie Agnès Dragon-Durey, Wolf H. Fridman, Bert J.C. Janssen, Timothy H.J. Goodship, John P. Atkinson

Research output: Contribution to journalArticlepeer-review

311 Scopus citations

Abstract

Atypical hemolytic uremic syndrome (aHUS) is a disease of complement dys-regulation. In approximately 50% of patients, mutations have been described in the genes encoding the complement regulators factor H, MCP, and factor I or the activator factor B. We report here mutations in the central component of the complement cascade, C3, in association with aHUS. We describe 9 novel C3 mutations in 14 aHUS patients with a persistently low serum C3 level. We have demonstrated that 5 of these mutations are gain-of-function and 2 are inactivating. This establishes C3 as a susceptibility factor for aHUS.

Original languageEnglish
Pages (from-to)4948-4952
Number of pages5
JournalBlood
Volume112
Issue number13
DOIs
StatePublished - Dec 15 2008

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