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

Fremeaux-Bacchi V., Miller E.C., Liszewski M.K., Strain L., Blouin J., Brown A.L., Moghal N., Kaplan B.S., Weiss R.A., Lhotta K., Kapur G., Mattoo T., Nivet H., Wong W., Gie S., Hurault de Ligny B., Fischbach M., Gupta R., Hauhart R., Meunier V., Loirat C., Dragon-Durey M.A., Fridman W.H., Janssen B.J., Goodship T.H., Atkinson J.P.

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.

Blood 112:4948-4952(2008) [PubMed] [Europe PMC]

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