J. S. Cameron and R. Vick, Plasma-C3 in haemolytic-uraemic syndrome and thrombotic thrombocytopenic purpura, Lancet, vol.2, p.975, 1973.

B. S. Kaplan, P. D. Thomson, and G. M. Macnab, Serum-complement levels in haemolyticuraemic syndrome, Lancet, vol.2, pp.1505-1506, 1973.

W. L. Robson, A. K. Leung, G. H. Fick, and A. I. Mckenna, Hypocomplementemia and leukocytosis in diarrhea-associated hemolytic uremic syndrome, Nephron, vol.62, pp.296-299, 1992.

F. Fakhouri, J. Zuber, V. Frémeaux-bacchi, and C. Loirat, Hemolytic uraemic syndrome, Lancet, vol.390, pp.681-696, 2017.

C. M. Legendre, C. Licht, P. Muus, L. A. Greenbaum, S. Babu et al., Association of a factor H mutation with hemolytic uremic syndrome following a diarrheal illness, Am J Kidney Dis, vol.20, pp.487-490, 2008.

M. Noris, J. Caprioli, E. Bresin, C. Mossali, G. Pianetti et al., Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype, Clin J Am Soc Nephrol, vol.5, pp.1844-1859, 2010.

M. Alberti, E. Valoti, R. Piras, E. Bresin, M. Galbusera et al., Two patients with history of STEC-HUS, posttransplant recurrence and complement gene mutations, Am J Transplant, vol.13, pp.2201-2206, 2013.

A. L. Sellier-leclerc, V. Fremeaux-bacchi, M. A. Dragon-durey, M. A. Macher, P. Niaudet et al., Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome, J Am Soc Nephrol, vol.18, pp.2392-2400, 2007.
URL : https://hal.archives-ouvertes.fr/inserm-00409786

N. Mccoy and D. J. Weaver, Hemolytic uremic syndrome with simultaneous Shiga toxin producing Escherichia coli and complement abnormalities, BMC Pediatr, vol.14, 2014.

C. Caillaud, A. Zaloszyc, C. Licht, V. Pichault, V. Frémeaux-bacchi et al., CFH gene mutation in a case of Shiga toxin-associated hemolytic uremic syndrome (STEC-HUS), Pediatr Nephrol, vol.31, pp.157-161, 2016.

R. C. Challis, G. S. Araujo, H. E. Wong-ek-anderson, A. Awan, A. M. Dorman et al., A De novo deletion in the regulators of complement activation cluster producing a hybrid complement factor H/Complement Factor H-Related 3 gene in atypical hemolytic uremic syndrome, J Am Soc Nephrol, vol.27, pp.1617-1624, 2016.

F. Dowen, K. Wood, A. L. Brown, J. Palfrey, D. Kavanagh et al., Rare genetic variants in Shiga toxin-associated hemolytic uraemic syndrome: genetic analysis prior to transplantation is essential, Clin Kidney J, vol.10, pp.490-493, 2017.

G. Ardissino, S. Salardi, E. Colombo, S. Testa, N. Borsa-ghiringhelli et al., Epidemiology of hemolytic uremic syndrome in children. Data from the North Italian HUS network, Eur J Pediatr, vol.175, pp.465-473, 2016.

A. Auton, L. D. Brooks, R. M. Durbin, E. P. Garrison, H. M. Kang et al., Genomes Project Consortium, A global reference for human genetic variation, Nature, vol.526, issue.7571, pp.68-74, 1000.

S. Limou, A. M. Taverner, and C. A. Winkler, Ferret: a user-friendly Java tool to extract data from the 1000 Genomes Project, Bioinformatics, vol.32, issue.14, pp.2224-2230, 2016.

M. Lek, K. J. Karczewski, E. V. Minikel, K. E. Samocha, E. Banks et al., , p.18

H. C. Watkins, J. G. Wilson, M. J. Daly, and D. G. Macarthur,

, Exome Aggregation Consortium

, Exome aggregation consortium analysis of protein-coding genetic variation in 60,706 humans, Nature, vol.536, pp.285-291, 2016.

S. Richards, N. Aziz, S. Bale, D. Bick, S. Das et al., ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, Genet Med, vol.17, pp.405-429, 2015.

T. H. Goodship, H. T. Cook, F. Fakhouri, F. C. Fervenza, V. Frémeaux-bacchi et al., Conference Participants. Atypical hemolytic uremic syndrome and C3 glomerulopathy: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference, vol.91, pp.539-551, 2017.

L. T. Roumenina, C. Loirat, M. A. Dragon-durey, L. Halbwachs-mecarelli, C. Sautes-fridman et al., Alternative complement pathway assessment in patients with atypical HUS, J Immunol Methods, vol.365, pp.8-26, 2011.

F. C. Mohlin, S. C. Nilsson, T. K. Levart, E. Golubovic, K. Rusai et al., Functional characterization of two novel non-synonymous alterations in CD46 and a Q950H change in factor H found in atypical hemolytic uremic syndrome patients, Mol Immunol, vol.65, pp.367-376, 2015.

M. Delvaeye, M. Noris, D. Vriese, A. Esmon, C. T. Esmon et al., Thrombomodulin mutations in atypical hemolytic-uremic syndrome, N Engl J Med, vol.361, pp.345-357, 2009.

R. Martinez-barricarte, G. Pianetti, R. Gautard, J. Misselwitz, L. Strain et al.,

, European Working Party on the Genetics of HUS. The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome, J Am Soc Nephrol, vol.19, pp.639-646, 2008.

A. J. Osborne, M. Breno, N. G. Borsa, F. Bu, V. Frémeaux-bacchi et al., Atypical HUS database Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy, J Immunol, vol.200, pp.2464-2478, 2018.

V. Frémeaux-bacchi, E. C. Miller, M. K. Liszewski, L. Strain, J. Blouin et al., Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome, Blood, vol.112, pp.4948-4952, 2008.

D. Brackman, L. Sartz, S. Leh, A. C. Kristoffersson, A. Bjerre et al., Thrombotic microangiopathy mimicking membranoproliferative glomerulonephritis, Nephrol Dial Transplant, vol.26, pp.3399-3403, 2011.

S. C. Nilsson, D. Karpman, F. Vaziri-sani, A. C. Kristoffersson, R. Salomon et al., A mutation in factor I that is associated with atypical hemolytic uremic syndrome does not affect the function of factor I in complement regulation, Mol Immunol, vol.44, pp.1835-1844, 2007.

Z. D. Békássy, A. C. Kristoffersson, M. Cronqvist, L. T. Roumenina, T. Rybkine et al., Eculizumab in an anephric patient with atypical hemolytic uraemic syndrome and advanced vascular lesions, Nephrol Dial Transplant, vol.28, pp.2899-2907, 2013.

D. Pérez-caballero, C. Gonzallez-rubio, M. E. Gallardo, M. Vera, M. López-trascasa et al., Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome, Am J Hum Genet, vol.68, pp.478-484, 2001.

E. C. Schramm, L. T. Roumenina, T. Rybkine, S. Chauvet, P. Vieira-martins et al., Fremeaux-Bacchi V. Mapping interactions between complement C3 and regulators using mutations in atypical hemolytic uremic syndrome, Blood, vol.125, pp.2359-2369, 2015.

A. Rosales, J. Hofer, L. B. Zimmerhackl, T. C. Jungraithmayr, M. Riedl et al., Need for long-term follow-up in enterohemorrhagic Escherichia coli-associated hemolytic uremic syndrome due to late-emerging sequelae, Clin Infect Dis, vol.54, pp.1413-1421, 2012.

J. M. Spinale, R. L. Ruebner, L. Copelovitch, and B. S. Kaplan, Long-term outcomes of Shiga toxin hemolytic uremic syndrome, Pediatr Nephrol, vol.28, pp.2097-2105, 2013.

R. A. Exeni, R. J. Fernandez-brando, A. P. Santiago, G. A. Fiorentino, A. M. Exeni et al., Pathogenic role of inflammatory response during Shiga toxinassociated hemolytic uremic syndrome (HUS), Pediatr Nephrol, vol.33, pp.2057-2071, 2018.

S. Ehrlenbach, A. Rosales, W. Posch, D. Wilflingseder, M. Hermann et al., Shiga toxin 2 reduces complement inhibitor CD59 expression on human renal tubular epithelial and glomerular endothelial cells, Infect Immun, vol.81, pp.2678-2685, 2013.

M. Frimat, F. Tabarin, J. D. Dimitrov, C. Poitou, L. Halbwachs-mecarelli et al., Complement activation by heme as a secondary hit for atypical hemolytic uremic syndrome, Blood, vol.122, pp.282-292, 2013.

V. Fremeaux-bacchi, F. Fakhouri, A. Garnier, F. Bienaimé, M. A. Dragon-durey et al., Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults, Clin J Am Soc Nephrol, vol.8, pp.554-562, 2013.