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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 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 Citation Map 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 Frémeaux-Bacchi, V. Articles by Atkinson, J. P. Search for Related Content PubMed PubMed Citation Articles by Frémeaux-Bacchi, V. Articles by Atkinson, J. P. Related Collections Hemostasis, Thrombosis, and Vascular Biology Red Cells Brief Reports Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  HEMOSTASIS, THROMBOSIS, AND VASCULAR BIOLOGY Brief Report Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome Veronique Frémeaux-Bacchi1,*, Elizabeth C. Miller2, M. Kathryn Liszewski2, Lisa Strain3, Jacques Blouin1, Alison L. Brown4, Nadeem Moghal5, Bernard S. Kaplan6, Robert A. Weiss7, Karl Lhotta8, Gaurav Kapur9, Tej Mattoo9, Hubert Nivet10, William Wong11, Sophie Gie12, Bruno Hurault de Ligny13, Michel Fischbach14, Ritu Gupta2, Richard Hauhart2, Vincent Meunier15, Chantal Loirat16, Marie-Agnès Dragon-Durey1, Wolf H. Fridman1, Bert J. C. Janssen17, Timothy H. J. Goodship18,*, and John P. Atkinson2,* 1 Service d'Immunologie Biologique, Hôpital Européen Georges Pompidou, Paris, and INSERM UMRS 872, Cordeliers Research Center, Paris, France; 2 Division of Rheumatology, Washington University School of Medicine, St Louis, MO; 3 Northern Molecular Genetics Service and Departments of 4 Renal Medicine and 5 Paediatric Nephrology, Newcastle upon Tyne Hospitals National Health Service Foundation Trust, Newcastle upon Tyne, United Kingdom; 6 Division of Nephrology, Children's Hospital of Philadelphia, PA; 7 Paediatric Nephrology, Maria Fareri Children's Hospital at Westchester Medical Center, Valhalla, NY; 8 Division of Clinical Nephrology, Department of Internal Medicine, Innsbruck University Hospital, Innsbruck, Austria; 9 Pediatric Nephrology, Children's Hospital of Michigan, Detroit; 10 Unité de Néphrologie Pédiatrique, Centre Hospitalier de Tours, Tours, France; 11 Starship Children's Hospital, Auckland, New Zealand; 12 Département de Médecine de l'Enfant et de l'Adolescent, Centre Hospitalier Universitaire Rennes, Hôpital Sud, Rennes, France; 13 Service de Néphrologie Transplantation Renale, Hôpital Clemenceau, Caen, France; 14 Service de Pédiatrie, Hôpital de Hautepierre, Strasbourg, France; 15 Service de Medecine Interne, Hôpital Robert Boulin, Libourne, France; 16 Service de Néphrologie Pédiatrique, Hôpital Robert-Debré, Paris, France; 17 Crystal and Structural Chemistry, Bijvoet Center for Biomolecular Research, Faculty of Science, Utrecht University, Utrecht, The Netherlands; and 18 Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, United Kingdom 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. 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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