{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,17]],"date-time":"2026-05-17T10:43:16Z","timestamp":1779014596555,"version":"3.51.4"},"reference-count":24,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2020,7,16]],"date-time":"2020-07-16T00:00:00Z","timestamp":1594857600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"DOI":"10.3389\/fimmu.2020.01348","type":"journal-article","created":{"date-parts":[[2020,7,16]],"date-time":"2020-07-16T05:26:10Z","timestamp":1594877170000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":10,"title":["The Relevance of the MCP Risk Polymorphism to the Outcome of aHUS Associated With C3 Mutations. A Case Report"],"prefix":"10.3389","volume":"11","author":[{"given":"Javier","family":"Lumbreras","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Subias","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia","family":"Espinosa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juana Mar\u00eda","family":"Ferrer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emilia","family":"Arjona","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Santiago","family":"Rodr\u00edguez de C\u00f3rdoba","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2020,7,16]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"589","DOI":"10.1056\/NEJMra020528","article-title":"Thrombotic microangiopathies","volume":"347","author":"Moake","year":"2002","journal-title":"N Engl J Med."},{"key":"B2","doi-asserted-by":"publisher","first-page":"785","DOI":"10.1038\/ni.1923","article-title":"Complement: a key system for immune surveillance and homeostasis","volume":"11","author":"Ricklin","year":"2010","journal-title":"Nat Immunol."},{"key":"B3","doi-asserted-by":"publisher","first-page":"1034","DOI":"10.1016\/j.imbio.2012.07.021","article-title":"Complement dysregulation and disease: from genes and proteins to diagnostics and drugs","volume":"217","author":"de Cordoba","year":"2012","journal-title":"Immunobiology."},{"key":"B4","doi-asserted-by":"publisher","first-page":"1542","DOI":"10.1016\/S0140-6736(03)14742-3","article-title":"Familial haemolytic uraemic syndrome and an MCP mutation","volume":"362","author":"Noris","year":"2003","journal-title":"Lancet."},{"key":"B5","doi-asserted-by":"publisher","first-page":"478","DOI":"10.1086\/318201","article-title":"Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome","volume":"68","author":"Perez-Caballero","year":"2001","journal-title":"Am J Hum Genet."},{"key":"B6","doi-asserted-by":"publisher","first-page":"12966","DOI":"10.1073\/pnas.2135497100","article-title":"Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome","volume":"100","author":"Richards","year":"2003","journal-title":"Proc Natl Acad Sci USA."},{"key":"B7","doi-asserted-by":"publisher","first-page":"836","DOI":"10.1111\/j.1523-1755.1998.00824.x","article-title":"Genetic studies into inherited and sporadic hemolytic uremic syndrome","volume":"53","author":"Warwicker","year":"1998","journal-title":"Kidney Int."},{"key":"B8","doi-asserted-by":"publisher","first-page":"703","DOI":"10.1093\/hmg\/ddi066","article-title":"Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32","volume":"14","author":"Esparza-Gordillo","year":"2005","journal-title":"Hum Mol Genet."},{"key":"B9","doi-asserted-by":"publisher","first-page":"e84","DOI":"10.1136\/jmg.2004.019083","article-title":"Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome","volume":"41","author":"Fremeaux-Bacchi","year":"2004","journal-title":"J Med Genet."},{"key":"B10","doi-asserted-by":"publisher","first-page":"4948","DOI":"10.1182\/blood-2008-01-133702","article-title":"Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome","volume":"112","author":"Fremeaux-Bacchi","year":"2008","journal-title":"Blood."},{"key":"B11","doi-asserted-by":"publisher","first-page":"240","DOI":"10.1016\/j.molimm.2006.07.076","article-title":"Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome","volume":"104","author":"Goicoechea de Jorge","year":"2007","journal-title":"Proc Natl Acad Sci USA."},{"key":"B12","doi-asserted-by":"publisher","first-page":"539","DOI":"10.1016\/j.kint.2016.10.005","article-title":"Atypical hemolytic uremic syndrome and C3 glomerulopathy: conclusions from a \u201ckidney disease: improving global outcomes\u201d (KDIGO) controversies conference","volume":"91","author":"Goodship","year":"2017","journal-title":"Kidney Int."},{"key":"B13","doi-asserted-by":"publisher","first-page":"709","DOI":"10.1016\/j.imbio.2015.05.015","article-title":"Complement genetics and susceptibility to inflammatory disease. Lessons from genotype-phenotype correlations","volume":"221","author":"de Cordoba","year":"2016","journal-title":"Immunobiology."},{"key":"B14","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1016\/j.molimm.2015.03.246","article-title":"Atypical aHUS: state of the art","volume":"67","author":"Nester","year":"2015","journal-title":"Mol Immunol."},{"key":"B15","doi-asserted-by":"publisher","first-page":"3702","DOI":"10.1172\/JCI43343","article-title":"Human C3 mutation reveals a mechanism of dense deposit disease pathogenesis and provides insights into complement activation and regulation","volume":"120","author":"Martinez-Barricarte","year":"2010","journal-title":"J Clin Invest."},{"key":"B16","doi-asserted-by":"publisher","first-page":"2057","DOI":"10.1007\/s00467-017-3876-0","article-title":"Pathogenic role of inflammatory response during Shiga toxin-associated hemolytic uremic syndrome (HUS)","volume":"33","author":"Exeni","year":"2018","journal-title":"Pediatr Nephrol."},{"key":"B17","doi-asserted-by":"publisher","first-page":"995","DOI":"10.1016\/j.kint.2019.05.014","article-title":"Severe and malignant hypertension are common in primary atypical hemolytic uremic syndrome","volume":"96","author":"Cavero","year":"2019","journal-title":"Kidney Int."},{"key":"B18","doi-asserted-by":"publisher","first-page":"2464","DOI":"10.4049\/jimmunol.1701695","article-title":"Statistical validation of rare complement variants provides insights into the molecular basis of atypical hemolytic uremic syndrome and C3 glomerulopathy","volume":"200","author":"Osborne","year":"2018","journal-title":"J Immunol."},{"key":"B19","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1016\/j.molimm.2015.03.248","article-title":"The molecular and structural bases for the association of complement C3 mutations with atypical hemolytic uremic syndrome","volume":"66","author":"Martinez-Barricarte","year":"2015","journal-title":"Mol Immunol."},{"key":"B20","doi-asserted-by":"publisher","first-page":"4182","DOI":"10.1182\/blood-2011-10-383281","article-title":"A prevalent C3 mutation in aHUS patients causes a direct C3 convertase gain of function","volume":"119","author":"Roumenina","year":"2012","journal-title":"Blood."},{"key":"B21","doi-asserted-by":"publisher","first-page":"2359","DOI":"10.1182\/blood-2014-10-609073","article-title":"Mapping interactions between complement C3 and regulators using mutations in atypical hemolytic uremic syndrome","volume":"125","author":"Schramm","year":"2015","journal-title":"Blood."},{"key":"B22","doi-asserted-by":"publisher","first-page":"212","DOI":"10.1016\/j.transci.2016.04.011","article-title":"Defining the genetics of thrombotic microangiopathies","volume":"54","author":"Vieira-Martins","year":"2016","journal-title":"Transfus Apher Sci."},{"key":"B23","doi-asserted-by":"publisher","first-page":"513","DOI":"10.1007\/s00467-015-3267-3","article-title":"aHUS associated with C3 gene mutation: a case with numerous relapses and favorable 20-year outcome","volume":"31","author":"Siomou","year":"2016","journal-title":"Pediatr Nephrol."},{"key":"B24","doi-asserted-by":"publisher","first-page":"72","DOI":"10.1016\/j.nefro.2015.07.007","article-title":"Eculizumab for the treatment of an atypical hemolytic uremic syndrome with mutations in complement factor I and C3","volume":"36","author":"Ferreira","year":"2016","journal-title":"Nefrologia."}],"container-title":["Frontiers in Immunology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fimmu.2020.01348\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,7,16]],"date-time":"2020-07-16T05:26:11Z","timestamp":1594877171000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fimmu.2020.01348\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7,16]]},"references-count":24,"alternative-id":["10.3389\/fimmu.2020.01348"],"URL":"https:\/\/doi.org\/10.3389\/fimmu.2020.01348","relation":{},"ISSN":["1664-3224"],"issn-type":[{"value":"1664-3224","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,7,16]]},"article-number":"1348"}}