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

@article{FrmeauxBacchi2008MutationsIC,
  title={Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome.},
  author={V{\'e}ronique Fr{\'e}meaux-Bacchi and Elizabeth C. Miller and M. Kathryn Liszewski and Lisa Strain and Jacques Blouin and Alison L. Brown and Nadeem Moghal and Bernard S. Kaplan and Robert A. Weiss and Karl Lhotta and Gaurav Kapur and Tej K. Mattoo and Hubert Nivet and William Wong and Sophie Gi{\'e} and Bruno Hurault de Ligny and Michel Fischbach and Ritu Gupta and Richard E. Hauhart and Vincent Meunier and Chantal Loirat and Marie-Agn{\`e}s Dragon-Durey and Wolf Herman Fridman and Bert J C Janssen and Timothy H. J. Goodship and John P Atkinson},
  journal={Blood},
  year={2008},
  volume={112 13},
  pages={4948-52}
}
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… CONTINUE READING

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