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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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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. (Blood. 2008; 112: 4948-4952)

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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

URL: http://dx.doi.org/10.1182/blood-2008-01-133702

DOI: 10.1182/blood-2008-01-133702

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