A novel C3 mutation causing increased formation of the C3 convertase in familial atypical hemolytic uremic syndrome

Journal of Immunology

Volumn 188, Issue 4, 2012, Pages 2030-2037

  Sartz, Lisa ^a   Olin, Anders I ^a   Kristoffersson, Ann Charlotte ^a   Ståhl, Anne Lie ^a   Johansson, Martin E ^b,c   Westman, Kerstin ^c   Fremeaux Bacchi, Veronique ^d   Nilsson Ekdahl, Kristina ^e,f   Karpman, Diana ^a  

^a LUND UNIVERSITY   (Sweden)

^b LUND UNIVERSITY   (Sweden)

^c LUND UNIVERSITY HOSPITAL   (Sweden)

^d HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^e LINNAEUS UNIVERSITY   (Sweden)

^f UPPSALA UNIVERSITY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

C9 CONVERTASE; CLASSICAL COMPLEMENT PATHWAY C3 C5 CONVERTASE; COMPLEMENT FACTOR H; SERINE PROTEINASE; UNCLASSIFIED DRUG;

ACUTE KIDNEY FAILURE; ADULT; ARTICLE; BLOOD SAMPLING; CASE REPORT; CLINICAL FEATURE; ENZYME ACTIVATION; EXON; FAMILIAL DISEASE; GENE MUTATION; GLOMERULONEPHRITIS; HEMATURIA; HEMOLYTIC ANEMIA; HEMOLYTIC UREMIC SYNDROME; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; HYPERTENSION; MALE; OUTCOME ASSESSMENT; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN CLEAVAGE; PROTEIN FUNCTION; PROTEIN PURIFICATION; PROTEINURIA; SURFACE PLASMON RESONANCE; THROMBOCYTE; THROMBOCYTOPENIA;

ANIMALS; CERCOPITHECUS AETHIOPS; COMPLEMENT ACTIVATION; COMPLEMENT C3-C5 CONVERTASES; COMPLEMENT C3A; COMPLEMENT C3B; COMPLEMENT C9; COMPLEMENT FACTOR B; COMPLEMENT FACTOR H; COMPLEMENT PATHWAY, ALTERNATIVE; COS CELLS; GLOMERULONEPHRITIS; HEMOLYTIC-UREMIC SYNDROME; HUMANS; MALE; MIDDLE AGED;

EID: 84856863401     PISSN: 00221767     EISSN: 15506606     Source Type: Journal    
DOI: 10.4049/jimmunol.1100319     Document Type: Article

References (31)

1. Noris, M., and G. Remuzzi. 2009. Atypical hemolytic-uremic syndrome. N. Engl. J. Med. 361: 1676-1687.
2. Richards, A., M. R. Buddles, R. L. Donne, B. S. Kaplan, E. Kirk, M. C. Venning, C. L. Tielemans, J. A. Goodship, and T. H. Goodship. 2001. Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition. Am. J. Hum. Genet. 68: 485-490. (Pubitemid 32147817)
3. Fremeaux-Bacchi, V., M. A. Dragon-Durey, J. Blouin, C. Vigneau, D. Kuypers, B. Boudailliez, C. Loirat, E. Rondeau, and W. H. Fridman. 2004. Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome. J. Med. Genet. 41: e84.
4. Fremeaux-Bacchi, V., E. A. Moulton, D. Kavanagh, M. A. Dragon-Durey, J. Blouin, A. Caudy, N. Arzouk, R. Cleper, M. Francois, G. Guest, et al. 2006. Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome. J. Am. Soc. Nephrol. 17: 2017-2025. (Pubitemid 44036186)
5. Zipfel, P. F., M. Edey, S. Heinen, M. Józsi, H. Richter, J. Misselwitz, B. Hoppe, D. Routledge, L. Strain, A. E. Hughes, et al. 2007. Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome. PLoS Genet. 3: e41.
6. Frémeaux-Bacchi, V., E. C. Miller, M. K. Liszewski, L. Strain, J. Blouin, A. L. Brown, N. Moghal, B. S. Kaplan, R. A. Weiss, K. Lhotta, et al. 2008. Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. Blood 112: 4948-4952.
7. Maga, T. K., C. J. Nishimura, A. E. Weaver, K. L. Frees, and R. J. Smith. 2010. Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. Hum. Mutat. 31: E1445-E1460.
8. Goicoechea de Jorge, E., C. L. Harris, J. Esparza-Gordillo, L. Carreras, E. A. Arranz, C. A. Garrido, M. López-Trascasa, P. Sánchez-Corral, B. P. Morgan, and S. Rodríguez de Córdoba. 2007. Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome. Proc. Natl. Acad. Sci. USA 104: 240-245. (Pubitemid 46068016)
9. Delvaeye, M., M. Noris, A. De Vriese, C. T. Esmon, N. L. Esmon, G. Ferrell, J. Del-Favero, S. Plaisance, B. Claes, D. Lambrechts, et al. 2009. Thrombomodulin mutations in atypical hemolytic-uremic syndrome. N. Engl. J. Med. 361: 345-357.
10. Loirat, C.,M.Noris, and V. Fremeaux-Bacchi. 2008. Complement and the atypical hemolytic uremic syndrome in children. Pediatr. Nephrol. 23: 1957-1972.
11. Moore, I., L. Strain, I. Pappworth, D. Kavanagh, P. N. Barlow, A. P. Herbert, C. Q. Schmidt, S. J. Staniforth, L. V. Holmes, R. Ward, et al. 2010. Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome. Blood 115: 379-387.
12. Benz, K., and K. Amann. 2009. Pathological aspects of membranoproliferative glomerulonephritis (MPGN) and haemolytic uraemic syndrome (HUS)/ thrombocytic thrombopenic purpura (TTP). Thromb. Haemost. 101: 265-270.
13. Appel, G. B., H. T. Cook, G. Hageman, J. C. Jennette, M. Kashgarian, M. Kirschfink, J. D. Lambris, L. Lanning, H. U. Lutz, S. Meri, et al. 2005. Membranoproliferative glomerulonephritis type II (dense deposit disease): an update. J. Am. Soc. Nephrol. 16: 1392-1403. (Pubitemid 41716523)
14. Martínez-Barricarte, R., M. Heurich, F. Valdes-Cañedo, E. Vazquez-Martul, E. Torreira, T. Montes, A. Tortajada, S. Pinto, M. Lopez-Trascasa, B. P. Morgan, et al. 2010. Human C3 mutation reveals a mechanism of dense deposit disease pathogenesis and provides insights into complement activation and regulation. J. Clin. Invest. 120: 3702-3712.
15. Vaziri-Sani, F., L. Holmberg, A. G. Sjöholm, A. C. Kristoffersson, M. Manea, V. Frémeaux-Bacchi, I. Fehrman-Ekholm, R. Raafat, and D. Karpman. 2006. Phenotypic expression of factor H mutations in patients with atypical hemolytic uremic syndrome. Kidney Int. 69: 981-988. (Pubitemid 43372172)
16. Dragon-Durey, M. A., C. Loirat, S. Cloarec, M. A. Macher, J. Blouin, H. Nivet, L. Weiss, W. H. Fridman, and V. Frémeaux-Bacchi. 2005. Anti-Factor H auto-antibodies associated with atypical hemolytic uremic syndrome. J. Am. Soc. Nephrol. 16: 555-563. (Pubitemid 41725154)
17. Ståhl, A. L., F. Vaziri-Sani, S. Heinen, A. C. Kristoffersson, K. H. Gydell, R. Raafat, A. Gutierrez, O. Beringer, P. F. Zipfel, and D. Karpman. 2008. Factor H dysfunction in patients with atypical hemolytic uremic syndrome contributes to complement deposition on platelets and their activation. Blood 111: 5307-5315.
18. Basta, M., and C. H. Hammer. 1991. A rapid FPLC method for purification of the third component of human and guinea pig complement. J. Immunol. Methods 142: 39-44.
19. Henningsson, A. J., J. Ernerudh, K. Sandholm, S. A. Carlsson, H. Granlund, C. Jansson, D. Nyman, P. Forsberg, and K. Nilsson Ekdahl. 2007. Complement activation in Lyme neuroborreliosis-increased levels of C1q and C3a in cerebrospinal fluid indicate complement activation in the CNS. J. Neuroimmunol. 183: 200-207. (Pubitemid 46204902)
20. Taniguchi-Sidle, A., and D. E. Isenman. 1992. Mutagenesis of the Arg-Gly-Asp triplet in human complement component C3 does not abolish binding of iC3b to the leukocyte integrin complement receptor type III (CR3, CD11b/CD18). J. Biol. Chem. 267: 635-643.
21. Gerritsen, H. E., P. L. Turecek, H. P. Schwarz, B. Lämmle, and M. Furlan. 1999. Assay of von Willebrand factor (vWF)-cleaving protease based on decreased collagen binding affinity of degraded vWF: a tool for the diagnosis of thrombotic thrombocytopenic purpura (TTP). Thromb. Haemost. 82: 1386-1389. (Pubitemid 29527624)
22. Peters, D. K., A. Martin, A. Weinstein, J. S. Cameron, T. M. Barratt, C. S. Ogg, and P. J. Lachmann. 1972. Complement studies in membrano-proliferative glomerulonephritis. Clin. Exp. Immunol. 11: 311-320.
23. Skattum, L., U. Mårtensson, and A. G. Sjöholm. 1997. Hypocomplementaemia caused by C3 nephritic factors (C3 NeF): clinical findings and the coincidence of C3 NeF type II with anti-C1q autoantibodies. J. Intern. Med. 242: 455-464. (Pubitemid 28015717)
24. Jokiranta, T. S., J. Westin, U. R. Nilsson, B. Nilsson, J. Hellwage, S. Löfås, D. L. Gordon, K. N. Ekdahl, and S. Meri. 2001. Complement C3b interactions studied with surface plasmon resonance technique. Int. Immunopharmacol. 1: 495-506. (Pubitemid 32197547)
25. Janssen, B. J. C., A. Christodoulidou, A. McCarthy, J. D. Lambris, and P. Gros.2006. Structure of C3b reveals conformational changes that underlie complement activity. Nature 444: 213-216. (Pubitemid 44722062)
26. Caprioli, J., M. Noris, S. Brioschi, G. Pianetti, F. Castelletti, P. Bettinaglio, C. Mele, E. Bresin, L. Cassis, S. Gamba, et al; International Registry of Recurrent and Familial HUS/TTP. 2006. Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. Blood 108: 1267-1279. (Pubitemid 44232024)
27. Fang, C. J., V. Fremeaux-Bacchi, M. K. Liszewski, G. Pianetti, M. Noris, T. H. Goodship, and J. P. Atkinson. 2008. Membrane cofactor protein mutations in atypical hemolytic uremic syndrome (aHUS), fatal Stx-HUS, C3 glomerulonephritis, and the HELLP syndrome. Blood 111: 624-632.
28. Caprioli, J., F. Castelletti, S. Bucchioni, P. Bettinaglio, E. Bresin, G. Pianetti, S. Gamba, S. Brioschi, E. Daina, G. Remuzzi, and M. Noris; International Registry of Recurrent and Familial HUS/TTP. 2003. Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease. Hum. Mol. Genet. 12: 3385-3395. (Pubitemid 37541083)
29. Neumann, H. P., M. Salzmann, B. Bohnert-Iwan, T. Mannuelian, C. Skerka, D. Lenk, B. U. Bender, M. Cybulla, P. Riegler, A. Königsrainer, et al. 2003. Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries. J. Med. Genet. 40: 676-681. (Pubitemid 37100700)
30. Roumenina, L. T., 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. 2009. Hyperfunctional C3 convertase leads to complement deposition on endothelial cells and contributes to atypical hemolytic uremic syndrome. Blood 114: 2837-2845.
31. Pickering, M. C., and H. T. Cook. 2008. Translational mini-review series on complement factor H: renal diseases associated with complement factor H: novel insights from humans and animals. Clin. Exp. Immunol. 151: 210-230.