Journal
BLOOD
Volume 112, Issue 13, Pages 4948-4952Publisher
AMER SOC HEMATOLOGY
DOI: 10.1182/blood-2008-01-133702
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Funding
- Robin Davies Trust
- Foundation for Children
- Medical Research Council [G0701325]
- Delegation Regionale a la Recherche Clinique
- Assistance Publique - Hopitaux de Paris [PHRC AOM 05 130]
- National Institutes of Health [R01 AI037618, R01 AI041592, T32 HL07317, T32 AI007163]
- MRC [G0701325] Funding Source: UKRI
- Medical Research Council [G0701325] Funding Source: researchfish
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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. 2008; 112: 4948-4952)
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