Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome
V Frémeaux-Bacchi, EC Miller… - Blood, The Journal …, 2008 - ashpublications.org
V Frémeaux-Bacchi, EC Miller, MK Liszewski, L Strain, J Blouin, AL Brown, N Moghal…
Blood, The Journal of the American Society of Hematology, 2008•ashpublications.orgAtypical 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 …
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 …
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.
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