| Literature DB >> 18796626 |
Veronique Frémeaux-Bacchi1, 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 Meunier, Chantal Loirat, Marie-Agnès Dragon-Durey, Wolf H Fridman, Bert J C Janssen, Timothy H J Goodship, John P Atkinson.
Abstract
Atypical hemolytic uremic syndrome (aHUS) is a disease of complement dysregulation. 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.Entities:
Mesh：
Substances：
Year: 2008 PMID： 18796626 PMCID： PMC2597601 DOI： 10.1182/blood-2008-01-133702
Source DB: PubMed Journal: Blood ISSN： 0006-4971 Impact factor: 22.113