Article
Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome.
Blood - 15 Dec 2008
Frémeaux-Bacchi Veronique, Miller Elizabeth C, Liszewski M Kathryn, Strain Lisa, Blouin Jacques, Brown Alison L, Moghal Nadeem, Kaplan Bernard S, Weiss Robert A, Lhotta Karl, Kapur Gaurav, Mattoo Tej, Nivet Hubert, Wong William, Gie Sophie, Hurault de Ligny Bruno, Fischbach Michel, Gupta Ritu, Hauhart Richard, Meunier Vincent, Loirat Chantal, Dragon-Durey Marie-Agnès, Fridman Wolf H, Janssen Bert J C, Goodship Timothy H J, Atkinson John P
Abstract excerpt
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...
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