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Blood. 2008 Dec 15;112(13):4948-52. doi: 10.1182/blood-2008-01-133702. Epub 2008 Sep 16.

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

Author information

1
Service d'Immunologie Biologique, Hôpital Européen Georges Pompidou, Paris, France.

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.

PMID:
18796626
PMCID:
PMC2597601
DOI:
10.1182/blood-2008-01-133702
[Indexed for MEDLINE]
Free PMC Article

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