2. Academic Validation
  3. Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome

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

  • Blood. 2008 Dec 15;112(13):4948-52. doi: 10.1182/blood-2008-01-133702.
Veronique Frémeaux-Bacchi 1,  Elizabeth C Miller,  M Kathryn Liszewski,  Lisa Strain,  Jacques Blouin,  Alison L Brown,  Nadeem Moghal,  Bernard S Kaplan,  Robert A Weiss,  Karl Lhotta,  Gaurav Kapur,  Tej Mattoo,  Hubert Nivet,  William Wong,  Sophie Gie,  Bruno Hurault de Ligny,  Michel Fischbach,  Ritu Gupta,  Richard Hauhart,  Vincent Meunier,  Chantal Loirat,  Marie-Agnès Dragon-Durey,  Wolf H Fridman,  Bert J C Janssen,  Timothy H J Goodship,  John P Atkinson
Affiliations

Affiliation

  • 1 Service d'Immunologie Biologique, Hôpital Européen Georges Pompidou, Paris, France.
PMID: 18796626 DOI: 10.1182/blood-2008-01-133702
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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