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Blood, 15 December 2008, Vol. 112, No. 13, pp. 4948-4952. Prepublished online as a Blood First Edition Paper on September 16, 2008; DOI 10.1182/blood-2008-01-133702. This Article Full Text (PDF) Supplemental Methods, Tables, and Figures All Versions of this Article: blood-2008-01-133702v1 112/13/4948    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Fremeaux-Bacchi, V. Articles by Atkinson, J. P Search for Related Content PubMed PubMed Citation Articles by Fremeaux-Bacchi, V. Articles by Atkinson, J. P Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted January 14, 2008 Accepted July 9, 2008 Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome Veronique Fremeaux-Bacchi, 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-Agnes Dragon-Durey, Wolf H Fridman, Bert J C Janssen, Timothy H.J. Goodship*, and John P Atkinson Service d’Immunologie Biologique, Hopital Europeen Georges Pompidou, Paris, France Division of Rheumatology, Washington University School of Medicine, St Louis, MO, United States Northern Molecular Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom Department of Renal Medicine, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom Paedatric Nephrology, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom Division of Nephrology, Children's Hospital of Philadelphia, Philadelphia, PA, United States Paediatric Nephrology, Maria Fareri Children's Hospital at Westchester Medical Center, Valhalla, NY, United States Division of Clinical Nephrology, Innsbruck University Hospital, Innsbruck, Austria Pediatric Nephrology, Children's Hospital of Michigan, Detroit, MI, United States Unite de Nephrologie Pediatrique, Centre Hospitalier de Tours, Tours, France Nephrology, Starship Children's Hospital, Auckland, New Zealand Departement de Medecine de l'Enfant et de l'Adolescent, Hopital Sud, Rennes, France Service de Nephrologie Transplantation Renale, Hopital Clemenceau, Caen, France Service de Pediatrie, Hopital de Hautepierre, Strasbourg, France Service de Medecine Interne, Hopital Robert Boulin, Libourne, France Service de Nephrologie Pediatrique, Hopital Robert-Debre, Paris, France Bijvoet Center for Biomolecular Research, Utrecht University, Utrecht, Netherlands Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, United Kingdom * Corresponding author; email: t.h.j.goodship{at}ncl.ac.uk. Atypical HUS (aHUS) is a disease of complement dysregulation. In ~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 nine novel C3 mutations in 14 aHUS patients with a persistently low serum C3 level. We have demonstrated that five of these mutations are gain of function and two inactivating. This establishes C3 as a susceptibility factor for aHUS. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: A. Lionet, F. Provot, F. Glowacki, V. Fremeaux-Bacchi, and M. Hazzan A case of adult atypical haemolytic uraemic syndrome related to anti-factor H autoantibodies successfully treated by plasma exchange, corticosteroids and rituximab NDT Plus, December 1, 2009; 2(6): 458 - 460. [Abstract] [Full Text] [PDF] M. Noris and G. Remuzzi Atypical Hemolytic-Uremic Syndrome N. Engl. J. Med., October 22, 2009; 361(17): 1676 - 1687. [Full Text] [PDF] L. T. Roumenina, M. Jablonski, C. Hue, J. Blouin, J. D. Dimitrov, M.-A. Dragon-Durey, M. Cayla, W. H. Fridman, M.-A. Macher, D. Ribes, et al. Hyperfunctional C3 convertase leads to complement deposition on endothelial cells and contributes to atypical hemolytic uremic syndrome Blood, September 24, 2009; 114(13): 2837 - 2845. [Abstract] [Full Text] [PDF] S. Strobel, P. F. Hoyer, C. J. Mache, E. Sulyok, W.-s. Liu, H. Richter, M. Oppermann, P. F. Zipfel, and M. Jozsi Functional analyses indicate a pathogenic role of factor H autoantibodies in atypical haemolytic uraemic syndrome Nephrol. Dial. Transplant., August 7, 2009; (2009) gfp388v1. [Abstract] [Full Text] [PDF] C. J. Mache, B. Acham-Roschitz, V. Fremeaux-Bacchi, M. Kirschfink, P. F. Zipfel, S. Roedl, U. Vester, and E. Ring Complement Inhibitor Eculizumab in Atypical Hemolytic Uremic Syndrome Clin. J. Am. Soc. Nephrol., August 1, 2009; 4(8): 1312 - 1316. [Abstract] [Full Text] [PDF] K. Lhotta, A. R. Janecke, J. Scheiring, B. Petzlberger, T. Giner, V. Fally, R. Wurzner, L. B. Zimmerhackl, G. Mayer, and V. Fremeaux-Bacchi A Large Family with a Gain-of-Function Mutation of Complement C3 Predisposing to Atypical Hemolytic Uremic Syndrome, Microhematuria, Hypertension and Chronic Renal Failure Clin. J. Am. Soc. Nephrol., August 1, 2009; 4(8): 1356 - 1362. [Abstract] [Full Text] [PDF] M. Delvaeye, M. Noris, A. De Vriese, C. T. Esmon, N. L. Esmon, G. Ferrell, J. Del-Favero, S. Plaisance, B. Claes, D. Lambrechts, et al. Thrombomodulin Mutations in Atypical Hemolytic-Uremic Syndrome N. Engl. J. Med., July 23, 2009; 361(4): 345 - 357. [Abstract] [Full Text] [PDF] M-A Dragon-Durey, C Blanc, F Marliot, C Loirat, J Blouin, C Sautes-Fridman, W H Fridman, and V Fremeaux-Bacchi The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome J. Med. Genet., July 1, 2009; 46(7): 447 - 450. [Abstract] [Full Text] [PDF] M. J. Lehtinen, A. L. Rops, D. E. Isenman, J. van der Vlag, and T. S. Jokiranta Mutations of Factor H Impair Regulation of Surface-bound C3b by Three Mechanisms in Atypical Hemolytic Uremic Syndrome J. Biol. Chem., June 5, 2009; 284(23): 15650 - 15658. [Abstract] [Full Text] [PDF] A. M. Risitano, R. Notaro, L. Marando, B. Serio, D. Ranaldi, E. Seneca, P. Ricci, F. Alfinito, A. Camera, G. Gianfaldoni, et al. Complement fraction 3 binding on erythrocytes as additional mechanism of disease in paroxysmal nocturnal hemoglobinuria patients treated by eculizumab Blood, April 23, 2009; 113(17): 4094 - 4100. 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