{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T15:26:09Z","timestamp":1759332369143,"version":"3.37.3"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2017,9,23]],"date-time":"2017-09-23T00:00:00Z","timestamp":1506124800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"name":"Instituto de Salud Carlos III (ES)","award":["PI14\/00405"],"award-info":[{"award-number":["PI14\/00405"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Clin Immunol"],"published-print":{"date-parts":[[2017,11]]},"DOI":"10.1007\/s10875-017-0447-x","type":"journal-article","created":{"date-parts":[[2017,9,23]],"date-time":"2017-09-23T11:15:32Z","timestamp":1506165332000},"page":"781-789","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations"],"prefix":"10.1007","volume":"37","author":[{"given":"Clara","family":"Franco-Jarava","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"\u00c1lvarez de la Campa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xavier","family":"Solanich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francisco","family":"Morandeira-Rego","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virg\u00ednia","family":"Mas-Bosch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina","family":"Garc\u00eda-Prat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xavier","family":"de la Cruz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Mart\u00edn-Nalda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pere","family":"Soler-Palac\u00edn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuel","family":"Hern\u00e1ndez-Gonz\u00e1lez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5964-536X","authenticated-orcid":false,"given":"Roger","family":"Colobran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2017,9,23]]},"reference":[{"issue":"1","key":"447_CR1","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1038\/cr.2009.139","volume":"20","author":"JR Dunkelberger","year":"2010","unstructured":"Dunkelberger JR, Song WC. Complement and its role in innate and adaptive immune responses. Cell Res. 2010;20(1):34\u201350.","journal-title":"Cell Res"},{"issue":"9","key":"447_CR2","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1038\/ni.1923","volume":"11","author":"D Ricklin","year":"2010","unstructured":"Ricklin D, Hajishengallis G, Yang K, Lambris JD. Complement: a key system for immune surveillance and homeostasis. Nat Immunol. 2010;11(9):785\u201397.","journal-title":"Nat Immunol"},{"key":"447_CR3","first-page":"262","volume":"6","author":"NS Merle","year":"2015","unstructured":"Merle NS, Church SE, Fremeaux-Bacchi V, Roumenina LT. Complement system part I\u2014molecular mechanisms of activation and regulation. Front Immunol. 2015;6:262.","journal-title":"Front Immunol"},{"issue":"5","key":"447_CR4","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1046\/j.1365-3083.2003.01326.x","volume":"58","author":"PF Paula de","year":"2003","unstructured":"de Paula PF, Barbosa JE, Junior PR, Ferriani VP, Latorre MR, Nudelman V, et al. Ontogeny of complement regulatory proteins\u2014concentrations of factor h, factor I, c4b-binding protein, properdin and vitronectin in healthy children of different ages and in adults. Scand J Immunol. 2003;58(5):572\u20137.","journal-title":"Scand J Immunol"},{"issue":"14","key":"447_CR5","doi-asserted-by":"crossref","first-page":"1611","DOI":"10.1016\/j.molimm.2011.04.004","volume":"48","author":"SC Nilsson","year":"2011","unstructured":"Nilsson SC, Sim RB, Lea SM, Fremeaux-Bacchi V, Blom AM. Complement factor I in health and disease. Mol Immunol. 2011;48(14):1611\u201320.","journal-title":"Mol Immunol"},{"issue":"11","key":"447_CR6","doi-asserted-by":"crossref","first-page":"1757","DOI":"10.1016\/j.bbapap.2006.09.007","volume":"1764","author":"SA Tsiftsoglou","year":"2006","unstructured":"Tsiftsoglou SA, Arnold JN, Roversi P, Crispin MD, Radcliffe C, Lea SM, et al. Human complement factor I glycosylation: structural and functional characterisation of the N-linked oligosaccharides. Biochim Biophys Acta. 2006;1764(11):1757\u201366.","journal-title":"Biochim Biophys Acta"},{"issue":"10","key":"447_CR7","doi-asserted-by":"crossref","first-page":"6492","DOI":"10.1016\/S0021-9258(20)82168-1","volume":"259","author":"G Goldberger","year":"1984","unstructured":"Goldberger G, Arnaout MA, Aden D, Kay R, Rits M, Colten HR. Biosynthesis and postsynthetic processing of human c3b\/c4b inactivator (factor I) in three hepatoma cell lines. J Biol Chem. 1984;259(10):6492\u20137.","journal-title":"J Biol Chem"},{"issue":"3","key":"447_CR8","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1111\/j.1365-3083.2006.01729.x","volume":"63","author":"S Reis E","year":"2006","unstructured":"Reis E S, Falc\u00e3o DA, Isaac L. Clinical aspects and molecular basis of primary deficiencies of complement component C3 and its regulatory proteins factor I and factor H. Scand J Immunol. 2006;63(3):155\u201368.","journal-title":"Scand J Immunol"},{"key":"447_CR9","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1186\/1750-1172-6-60","volume":"6","author":"C Loirat","year":"2011","unstructured":"Loirat C, Fr\u00e9meaux-Bacchi V. Atypical hemolytic uremic syndrome. Orphanet J Rare Dis. 2011;6:60.","journal-title":"Orphanet J Rare Dis"},{"issue":"13","key":"447_CR10","first-page":"3861","volume":"24","author":"D Kavanagh","year":"2015","unstructured":"Kavanagh D, Yu Y, Schramm EC, Triebwasser M, Wagner EK, Raychaudhuri S, et al. Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels. Hum Mol Genet. 2015;24(13):3861\u201370.","journal-title":"Hum Mol Genet"},{"issue":"11","key":"447_CR11","doi-asserted-by":"crossref","first-page":"1366","DOI":"10.1038\/ng.2741","volume":"45","author":"JM Seddon","year":"2013","unstructured":"Seddon JM, Yu Y, Miller EC, Reynolds R, Tan PL, Gowrisankar S, et al. Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration. Nat Genet. 2013;45(11):1366\u201370.","journal-title":"Nat Genet"},{"issue":"1","key":"447_CR12","doi-asserted-by":"crossref","first-page":"19","DOI":"10.4049\/jimmunol.107.1.19","volume":"107","author":"N Abramson","year":"1971","unstructured":"Abramson N, Alper CA, Lachmann PJ, Rosen FS, Jandl JH. Deficiency of C3 inactivator in man. J Immunol. 1971;107(1):19\u201327.","journal-title":"J Immunol"},{"issue":"4","key":"447_CR13","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1172\/JCI118515","volume":"97","author":"TJ Vyse","year":"1996","unstructured":"Vyse TJ, Morley BJ, Bartok I, Theodoridis EL, Davies KA, Webster AD, et al. The molecular basis of hereditary complement factor I deficiency. J Clin Invest. 1996;97(4):925\u201333.","journal-title":"J Clin Invest"},{"key":"447_CR14","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/j.imlet.2016.04.011","volume":"174","author":"C Franco-Jarava","year":"2016","unstructured":"Franco-Jarava C, Colobran R, Mestre-Torres J, Vargas V, Pujol-Borrell R, Hern\u00e1ndez-Gonz\u00e1lez M. Clinical laboratory standard capillary protein electrophoresis alerted of a low C3 state and lead to the identification of a factor I deficiency due to a novel homozygous mutation. Immunol Lett. 2016;174:19\u201322.","journal-title":"Immunol Lett"},{"issue":"2","key":"447_CR15","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1016\/j.clim.2015.05.004","volume":"160","author":"JT Bay","year":"2015","unstructured":"Bay JT, Katzenstein TL, Kofoed K, Patel D, Skjoedt MO, Garred P, et al. Novel CFI mutation in a patient with leukocytoclastic vasculitis may redefine the clinical spectrum of complement factor I deficiency. Clin Immunol. 2015;160(2):315\u20138.","journal-title":"Clin Immunol"},{"issue":"8","key":"447_CR16","doi-asserted-by":"crossref","first-page":"1293","DOI":"10.1007\/s10875-013-9944-8","volume":"33","author":"F Haerynck","year":"2013","unstructured":"Haerynck F, Stordeur P, Vandewalle J, Van Coster R, Bordon V, De Baets F, et al. Complete factor I deficiency due to dysfunctional factor I with recurrent aseptic meningo-encephalitis. J Clin Immunol. 2013;33(8):1293\u2013301.","journal-title":"J Clin Immunol"},{"key":"447_CR17","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1186\/1750-1172-7-42","volume":"7","author":"M Alba-Dom\u00ednguez","year":"2012","unstructured":"Alba-Dom\u00ednguez M, L\u00f3pez-Lera A, Garrido S, Nozal P, Gonz\u00e1lez-Granado I, Melero J, et al. Complement factor I deficiency: a not so rare immune defect: characterization of new mutations and the first large gene deletion. Orphanet J Rare Dis. 2012;7:42.","journal-title":"Orphanet J Rare Dis"},{"issue":"8","key":"447_CR18","doi-asserted-by":"crossref","first-page":"1068","DOI":"10.1016\/j.molimm.2011.01.012","volume":"48","author":"IM Nita","year":"2011","unstructured":"Nita IM, Genel F, Nilsson SC, Smart J, Truedsson L, Choo S, et al. Molecular characterization of two novel cases of complete complement inhibitor factor I deficiency. Mol Immunol. 2011;48(8):1068\u201372.","journal-title":"Mol Immunol"},{"issue":"1","key":"447_CR19","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1002\/eji.200838702","volume":"39","author":"SC Nilsson","year":"2009","unstructured":"Nilsson SC, Trouw LA, Renault N, Miteva MA, Genel F, Zelazko M, et al. Genetic, molecular and functional analyses of complement factor I deficiency. Eur J Immunol. 2009;39(1):310\u201323.","journal-title":"Eur J Immunol"},{"issue":"10","key":"447_CR20","doi-asserted-by":"crossref","first-page":"2764","DOI":"10.1016\/j.molimm.2008.02.008","volume":"45","author":"IM Ponce-Castro","year":"2008","unstructured":"Ponce-Castro IM, Gonz\u00e1lez-Rubio C, Delgado-Cervi\u00f1o EM, Abarrategui-Garrido C, Font\u00e1n G, S\u00e1nchez-Corral P, et al. Molecular characterization of complement factor I deficiency in two Spanish families. Mol Immunol. 2008;45(10):2764\u201371.","journal-title":"Mol Immunol"},{"issue":"2","key":"447_CR21","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1046\/j.1365-2249.2003.02077.x","volume":"131","author":"GV Baracho","year":"2003","unstructured":"Baracho GV, Nudelman V, Isaac L. Molecular characterization of homozygous hereditary factor I deficiency. Clin Exp Immunol. 2003;131(2):280\u20136.","journal-title":"Clin Exp Immunol"},{"issue":"3","key":"447_CR22","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1002\/wcms.1170","volume":"4","author":"C Riera","year":"2014","unstructured":"Riera C, Lois S, de la Cruz X. Prediction of pathological mutations in proteins: the challenge of integrating sequence conservation and structure stability principles. Wiley Interdiscip Rev Comput Mol Sci. 2014;4(3):249\u201368.","journal-title":"Wiley Interdiscip Rev Comput Mol Sci"},{"issue":"Web Server issu","key":"447_CR23","doi-asserted-by":"crossref","first-page":"W306","DOI":"10.1093\/nar\/gki375","volume":"33","author":"E Capriotti","year":"2005","unstructured":"Capriotti E, Fariselli P, Casadio R. I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure. Nucleic Acids Res. 2005;33(Web Server issue):W306\u201310.","journal-title":"Nucleic Acids Res"},{"issue":"Suppl 8","key":"447_CR24","doi-asserted-by":"crossref","first-page":"S8","DOI":"10.1186\/1471-2105-10-S8-S8","volume":"10","author":"Y Bromberg","year":"2009","unstructured":"Bromberg Y, Rost B. Correlating protein function and stability through the analysis of single amino acid substitutions. BMC Bioinformatics. 2009;10(Suppl 8):S8.","journal-title":"BMC Bioinformatics"},{"issue":"8","key":"447_CR25","doi-asserted-by":"crossref","first-page":"1694","DOI":"10.1111\/j.1600-6143.2008.02297.x","volume":"8","author":"M Quintrec Le","year":"2008","unstructured":"Le Quintrec M, Lionet A, Kamar N, Karras A, Barbier S, Buchler M, et al. Complement mutation-associated de novo thrombotic microangiopathy following kidney transplantation. Am J Transplant. 2008;8(8):1694\u2013701.","journal-title":"Am J Transplant"},{"issue":"31","key":"447_CR26","doi-asserted-by":"crossref","first-page":"12839","DOI":"10.1073\/pnas.1102167108","volume":"108","author":"P Roversi","year":"2011","unstructured":"Roversi P, Johnson S, Caesar JJ, McLean F, Leath KJ, Tsiftsoglou SA, et al. Structural basis for complement factor I control and its disease-associated sequence polymorphisms. Proc Natl Acad Sci U S A. 2011;108(31):12839\u201344.","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"4","key":"447_CR27","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1124\/pr.111.004523","volume":"63","author":"VG Mart\u00ednez","year":"2011","unstructured":"Mart\u00ednez VG, Moestrup SK, Holmskov U, Mollenhauer J, Lozano F. The conserved scavenger receptor cysteine-rich superfamily in therapy and diagnosis. Pharmacol Rev. 2011;63(4):967\u20131000.","journal-title":"Pharmacol Rev"},{"issue":"16","key":"447_CR28","doi-asserted-by":"crossref","first-page":"6239","DOI":"10.1021\/bi047680t","volume":"44","author":"SA Tsiftsoglou","year":"2005","unstructured":"Tsiftsoglou SA, Willis AC, Li P, Chen X, Mitchell DA, Rao Z, et al. The catalytically active serine protease domain of human complement factor I. Biochemistry. 2005;44(16):6239\u201349.","journal-title":"Biochemistry"},{"issue":"3","key":"447_CR29","first-page":"E116","volume":"56","author":"G Gabutti","year":"2015","unstructured":"Gabutti G, Stefanati A, Kuhdari P. Epidemiology of Neisseria meningitidis infections: case distribution by age and relevance of carriage. J Prev Med Hyg. 2015;56(3):E116\u201320.","journal-title":"J Prev Med Hyg"},{"issue":"2","key":"447_CR30","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1016\/j.molimm.2014.06.030","volume":"61","author":"AS Grumach","year":"2014","unstructured":"Grumach AS, Kirschfink M. Are complement deficiencies really rare? Overview on prevalence, clinical importance and modern diagnostic approach. Mol Immunol. 2014;61(2):110\u20137.","journal-title":"Mol Immunol"}],"container-title":["Journal of Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10875-017-0447-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-017-0447-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-017-0447-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,26]],"date-time":"2023-08-26T08:40:17Z","timestamp":1693039217000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10875-017-0447-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9,23]]},"references-count":30,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2017,11]]}},"alternative-id":["447"],"URL":"https:\/\/doi.org\/10.1007\/s10875-017-0447-x","relation":{},"ISSN":["0271-9142","1573-2592"],"issn-type":[{"type":"print","value":"0271-9142"},{"type":"electronic","value":"1573-2592"}],"subject":[],"published":{"date-parts":[[2017,9,23]]}}}