{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T13:10:02Z","timestamp":1782738602451,"version":"3.54.5"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Clin Immunol"],"published-print":{"date-parts":[[2013,1]]},"DOI":"10.1007\/s10875-012-9775-z","type":"journal-article","created":{"date-parts":[[2012,9,20]],"date-time":"2012-09-20T15:48:02Z","timestamp":1348156082000},"page":"127-133","source":"Crossref","is-referenced-by-count":15,"title":["A Novel Mutation in the Complement Component 3 Gene in a Patient with Selective IgA Deficiency"],"prefix":"10.1007","volume":"33","author":[{"given":"Elisangela","family":"Santos-Valente","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ismail","family":"Reisli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hasibe","family":"Arta\u00e7","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raphael","family":"Ott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00d6zden","family":"Sanal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaan","family":"Boztug","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2012,9,21]]},"reference":[{"issue":"6","key":"9775_CR1","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.1016\/j.jaci.2009.10.013","volume":"124","author":"LD Notarangelo","year":"2009","unstructured":"Notarangelo LD, Fischer A, Geha RS, Casanova JL, Chapel H, Conley ME, et al. Primary immunodeficiencies: 2009 update. J Allergy Clin Immunol. 2009;124(6):1161\u201378.","journal-title":"J Allergy Clin Immunol"},{"issue":"1","key":"9775_CR2","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":"4","key":"9775_CR3","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1128\/CMR.00048-09","volume":"23","author":"S Ram","year":"2010","unstructured":"Ram S, Lewis LA, Rice PA. Infections of people with complement deficiencies and patients who have undergone splenectomy. Clin Microbiol Rev. 2010;23(4):740\u201380.","journal-title":"Clin Microbiol Rev"},{"issue":"6","key":"9775_CR4","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1097\/00130832-200312000-00006","volume":"3","author":"C Picard","year":"2003","unstructured":"Picard C, Puel A, Bustamante J, Ku CL, Casanova JL. Primary immunodeficiencies associated with pneumococcal disease. Curr Opin Allergy Clin Immunol. 2003;3(6):451\u20139.","journal-title":"Curr Opin Allergy Clin Immunol"},{"issue":"14","key":"9775_CR5","doi-asserted-by":"crossref","first-page":"1643","DOI":"10.1016\/j.molimm.2011.05.001","volume":"48","author":"L Skattum","year":"2011","unstructured":"Skattum L, van Deuren M, van der Poll T, Truedsson L. Complement deficiency states and associated infections. Mol Immunol. 2011;48(14):1643\u201355.","journal-title":"Mol Immunol"},{"issue":"11","key":"9775_CR6","doi-asserted-by":"crossref","first-page":"4957","DOI":"10.1073\/pnas.89.11.4957","volume":"89","author":"M Botto","year":"1992","unstructured":"Botto M, Fong KY, So AK, Barlow R, Routier R, Morley BJ, et al. Homozygous hereditary C3 deficiency due to a partial gene deletion. Proc Natl Acad Sci U S A. 1992;89(11):4957\u201361.","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"4","key":"9775_CR7","doi-asserted-by":"crossref","first-page":"1158","DOI":"10.1172\/JCI114821","volume":"86","author":"M Botto","year":"1990","unstructured":"Botto M, Fong KY, So AK, Rudge A, Walport MJ. Molecular basis of hereditary C3 deficiency. J Clin Invest. 1990;86(4):1158\u201363.","journal-title":"J Clin Invest"},{"issue":"7","key":"9775_CR8","doi-asserted-by":"crossref","first-page":"5158","DOI":"10.4049\/jimmunol.181.7.5158","volume":"181","author":"A Ghannam","year":"2008","unstructured":"Ghannam A, Pernollet M, Fauquert JL, Monnier N, Ponard D, Villiers MB, et al. Human C3 deficiency associated with impairments in dendritic cell differentiation, memory B cells, and regulatory T cells. J Immunol. 2008;181(7):5158\u201366.","journal-title":"J Immunol"},{"issue":"15\u201316","key":"9775_CR9","doi-asserted-by":"crossref","first-page":"1926","DOI":"10.1016\/j.molimm.2011.05.020","volume":"48","author":"M Goldberg","year":"2011","unstructured":"Goldberg M, Fremeaux-Bacchi V, Koch P, Fishelson Z, Katz Y. A novel mutation in the C3 gene and recurrent invasive pneumococcal infection: a clue for vaccine development. Mol Immunol. 2011;48(15\u201316):1926\u201331.","journal-title":"Mol Immunol"},{"issue":"1","key":"9775_CR10","first-page":"5","volume":"84","author":"Y Katz","year":"1995","unstructured":"Katz Y, Wetsel RA, Schlesinger M, Fishelson Z. Compound heterozygous complement C3 deficiency. Immunology. 1995;84(1):5\u20137.","journal-title":"Immunology"},{"issue":"2","key":"9775_CR11","doi-asserted-by":"crossref","first-page":"e16","DOI":"10.1111\/j.1442-200X.2010.03259.x","volume":"53","author":"Y Okura","year":"2011","unstructured":"Okura Y, Yamada M, Takezaki S, Nawate M, Takahashi Y, Kida M, et al. Novel compound heterozygous mutations in the C3 gene: hereditary C3 deficiency. Pediatr Int. 2011;53(2):e16\u20139.","journal-title":"Pediatr Int"},{"issue":"6","key":"9775_CR12","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1097\/MD.0b013e3181fd8ec3","volume":"89","author":"C Picard","year":"2010","unstructured":"Picard C, von Bernuth H, Ghandil P, Chrabieh M, Levy O, Arkwright PD, et al. Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency. Medicine (Baltimore). 2010;89(6):403\u201325.","journal-title":"Medicine (Baltimore)"},{"issue":"13","key":"9775_CR13","doi-asserted-by":"crossref","first-page":"4948","DOI":"10.1182\/blood-2008-01-133702","volume":"112","author":"V Fremeaux-Bacchi","year":"2008","unstructured":"Fremeaux-Bacchi V, Miller EC, Liszewski MK, Strain L, Blouin J, Brown AL, et al. Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. Blood. 2008;112(13):4948\u201352.","journal-title":"Blood"},{"issue":"12","key":"9775_CR14","doi-asserted-by":"crossref","first-page":"1254","DOI":"10.2169\/internalmedicine.40.1254","volume":"40","author":"W Matsuyama","year":"2001","unstructured":"Matsuyama W, Nakagawa M, Takashima H, Muranaga F, Sano Y, Osame M. Molecular analysis of hereditary deficiency of the third component of complement (C3) in two sisters. Intern Med. 2001;40(12):1254\u20138.","journal-title":"Intern Med"},{"issue":"4","key":"9775_CR15","doi-asserted-by":"crossref","first-page":"2030","DOI":"10.4049\/jimmunol.1100319","volume":"188","author":"L Sartz","year":"2012","unstructured":"Sartz L, Olin AI, Kristoffersson AC, Stahl AL, Johansson ME, Westman K, et al. A novel C3 mutation causing increased formation of the C3 convertase in familial atypical hemolytic uremic syndrome. J Immunol. 2012;188(4):2030\u20137.","journal-title":"J Immunol"},{"issue":"4","key":"9775_CR16","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1023\/B:JOCI.0000029109.15355.ba","volume":"24","author":"O Sanal","year":"2004","unstructured":"Sanal O, Ersoy F, Tezcan I, Metin A, Turul T, Gariboglu S, et al. Antibody response to a seven-valent pneumococcal conjugated vaccine in patients with ataxia-telangiectasia. J Clin Immunol. 2004;24(4):411\u20137.","journal-title":"J Clin Immunol"},{"issue":"4","key":"9775_CR17","doi-asserted-by":"crossref","first-page":"1323","DOI":"10.1073\/pnas.86.4.1323","volume":"86","author":"D Grossberger","year":"1989","unstructured":"Grossberger D, Marcuz A, Du Pasquier L, Lambris JD. Conservation of structural and functional domains in complement component C3 of Xenopus and mammals. Proc Natl Acad Sci U S A. 1989;86(4):1323\u20137.","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"2","key":"9775_CR18","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1093\/clinids\/3.2.289","volume":"3","author":"JA Winkelstein","year":"1981","unstructured":"Winkelstein JA. The role of complement in the host\u2019s defense against Streptococcus pneumoniae. Rev Infect Dis. 1981;3(2):289\u201398.","journal-title":"Rev Infect Dis"},{"issue":"2","key":"9775_CR19","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1093\/infdis\/142.2.175","volume":"142","author":"JC Guckian","year":"1980","unstructured":"Guckian JC, Christensen GD, Fine DP. The role of opsonins in recovery from experimental pneumococcal pneumonia. J Infect Dis. 1980;142(2):175\u201390.","journal-title":"J Infect Dis"},{"issue":"1","key":"9775_CR20","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.imlet.2004.10.010","volume":"98","author":"J Kolln","year":"2005","unstructured":"Kolln J, Bredehorst R, Spillner E. Engineering of human complement component C3 for catalytic inhibition of complement. Immunol Lett. 2005;98(1):49\u201356.","journal-title":"Immunol Lett"},{"issue":"9","key":"9775_CR21","doi-asserted-by":"crossref","first-page":"5540","DOI":"10.4049\/jimmunol.173.9.5540","volume":"173","author":"J Kolln","year":"2004","unstructured":"Kolln J, Spillner E, Andra J, Klensang K, Bredehorst R. Complement inactivation by recombinant human C3 derivatives. J Immunol. 2004;173(9):5540\u20135.","journal-title":"J Immunol"},{"issue":"11","key":"9775_CR22","doi-asserted-by":"crossref","first-page":"5285","DOI":"10.4049\/jimmunol.153.11.5285","volume":"153","author":"A Taniguchi-Sidle","year":"1994","unstructured":"Taniguchi-Sidle A, Isenman DE. Interactions of human complement component C3 with factor B and with complement receptors type 1 (CR1, CD35) and type 3 (CR3, CD11b\/CD18) involve an acidic sequence at the N-terminus of C3 alpha\u2019-chain. J Immunol. 1994;153(11):5285\u2013302.","journal-title":"J Immunol"},{"issue":"1\u20133","key":"9775_CR23","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.molimm.2006.06.017","volume":"44","author":"BJ Janssen","year":"2007","unstructured":"Janssen BJ, Gros P. Structural insights into the central complement component C3. Mol Immunol. 2007;44(1\u20133):3\u201310.","journal-title":"Mol Immunol"},{"issue":"1","key":"9775_CR24","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/j.bbadis.2010.09.002","volume":"1812","author":"S Rodriguez de Cordoba","year":"2011","unstructured":"Rodriguez de Cordoba S, Harris CL, Morgan BP, Llorca O. Lessons from functional and structural analyses of disease-associated genetic variants in the complement alternative pathway. Biochim Biophys Acta. 2011;1812(1):12\u201322.","journal-title":"Biochim Biophys Acta"},{"issue":"1","key":"9775_CR25","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/0014-5793(93)81139-Q","volume":"315","author":"K Dolmer","year":"1993","unstructured":"Dolmer K, Sottrup-Jensen L. Disulfide bridges in human complement component C3b. FEBS Lett. 1993;315(1):85\u201390.","journal-title":"FEBS Lett"},{"issue":"3","key":"9775_CR26","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1016\/j.vaccine.2009.10.085","volume":"28","author":"D Bogaert","year":"2010","unstructured":"Bogaert D, Thompson CM, Trzcinski K, Malley R, Lipsitch M. The role of complement in innate and adaptive immunity to pneumococcal colonization and sepsis in a murine model. Vaccine. 2010;28(3):681\u20135.","journal-title":"Vaccine"},{"issue":"1","key":"9775_CR27","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1007\/s10875-009-9357-x","volume":"30","author":"L Yel","year":"2010","unstructured":"Yel L. Selective IgA deficiency. J Clin Immunol. 2010;30(1):10\u20136.","journal-title":"J Clin Immunol"},{"issue":"1","key":"9775_CR28","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.clim.2003.12.005","volume":"111","author":"E Edwards","year":"2004","unstructured":"Edwards E, Razvi S, Cunningham-Rundles C. IgA deficiency: clinical correlates and responses to pneumococcal vaccine. Clin Immunol. 2004;111(1):93\u20137.","journal-title":"Clin Immunol"},{"key":"9775_CR29","unstructured":"Dominguez O, Giner MT, Alsina L, Martin MA, Lozano J, Plaza AM. [Clinical phenotypes associated with selective IgA deficiency: a review of 330 cases and a proposed follow-up protocol.]. An Pediatr (Barc);2012 Jan 10."}],"container-title":["Journal of Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-012-9775-z","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,6,25]],"date-time":"2023-06-25T21:58:01Z","timestamp":1687730281000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10875-012-9775-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,9,21]]},"references-count":29,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,1]]}},"alternative-id":["9775"],"URL":"https:\/\/doi.org\/10.1007\/s10875-012-9775-z","relation":{},"ISSN":["0271-9142","1573-2592"],"issn-type":[{"value":"0271-9142","type":"print"},{"value":"1573-2592","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,9,21]]}}}