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

Lookup NU author(s): Dr Veronique Fremaux-Bacchi, Dr Lisa Turnbull, Dr Alison Brown, Dr Nadeem Moghal, Professor Tim Goodship


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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)

Publication metadata

Author(s): Fremeaux-Bacchi V, Miller EC, Liszewski MK, Strain L, Blouin J, Brown AL, Moghal N, Kaplan BS, Weiss RA, Lhotta K, Kapur G, Mattoo T, Nivet H, Wong W, Gie S, de Ligny BH, Fischbach M, Gupta R, Hauhart R, Meunier V, Loirat C, Dragon-Durey MA, Fridman WH, Janssen BJC, Goodship THJ, Atkinson JP

Publication type: Article

Publication status: Published

Journal: Blood

Year: 2008

Volume: 112

Issue: 13

Pages: 4948-4952

ISSN (print): 0006-4971

ISSN (electronic): 1528-0020

Publisher: American Society of Hematology


DOI: 10.1182/blood-2008-01-133702


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Funder referenceFunder name
Foundation for Children
Delegation Regionale a la Recherche Clinique
Robin Davies Trust
G0701325Medical Research Council
PHRC AOM 05 130Assistance Publique - Hopitaux de Paris
R01 AI037618National Institutes of Health
R01 AI041592National Institutes of Health
T32 AI007163National Institutes of Health
T32 HL07317National Institutes of Health