{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,15]],"date-time":"2024-07-15T12:40:11Z","timestamp":1721047211981},"reference-count":13,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,4]]},"abstract":"<jats:p>Although bacterial meningitis is a rare presentation of a congenital immunodeficiency, invasive meningococcal disease is classically associated with complement deficiencies. We report a patient from a consanguineous kindred presenting with an invasive meningococcal disease caused by serogroup B meningococcus that revealed an underlying C5 deficiency caused by a novel mutation in the C5 gene.<\/jats:p>","DOI":"10.1097\/inf.0000000000002149","type":"journal-article","created":{"date-parts":[[2018,8,1]],"date-time":"2018-08-01T21:40:08Z","timestamp":1533159608000},"page":"416-418","source":"Crossref","is-referenced-by-count":3,"title":["Invasive Meningococcal Disease Unraveling a Novel Mutation in the C5 Gene in a Portuguese Family"],"prefix":"10.1097","volume":"38","author":[{"given":"Filipa","family":"Marujo","sequence":"first","affiliation":[{"name":"Primary Immunodeficiencies Unit, Hospital Dona Estef\u00e2nia- CHLC, EPE"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lu\u00eds Carlos","family":"Costa","sequence":"additional","affiliation":[{"name":"Primary Immunodeficiencies Unit, Hospital Dona Estef\u00e2nia- CHLC, EPE"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Regina","family":"Duarte","sequence":"additional","affiliation":[{"name":"Plastic Surgery Unit, Hospital Dona Estef\u00e2nia- CHLC, EPE"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Jo\u00e3o","family":"Brito","sequence":"additional","affiliation":[{"name":"Infectious Diseases Unit, Hospital Dona Estef\u00e2nia- CHLC, EPE"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Cordeiro","sequence":"additional","affiliation":[{"name":"Primary Immunodeficiencies Unit, Hospital Dona Estef\u00e2nia- CHLC, EPE"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Concei\u00e7\u00e3o","family":"Neves","sequence":"additional","affiliation":[{"name":"Primary Immunodeficiencies Unit, Hospital Dona Estef\u00e2nia- CHLC, EPE"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jo\u00e3o Farela","family":"Neves","sequence":"additional","affiliation":[{"name":"Primary Immunodeficiencies Unit, Hospital Dona Estef\u00e2nia- CHLC, EPE"},{"name":"Infectious Diseases Unit, Hospital Dona Estef\u00e2nia- CHLC, EPE"},{"name":"CEDOC, Chronic Diseases Research Center, NOVA Medical School, Lisboa, Portugal."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","reference":[{"key":"R1-20230912","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1111\/j.1600-0463.2011.02740.x","article-title":"Recurrent meningococcal sepsis in a presumptive immunocompetent host shown to be complement C5 deficient-a case report.","volume":"119","author":"Grimnes","year":"2011","journal-title":"APMIS"},{"key":"R2-20230912","doi-asserted-by":"crossref","first-page":"e0176177","DOI":"10.1371\/journal.pone.0176177","article-title":"Predicted strain coverage of a meningococcal multicomponent vaccine (4CMenB) in Portugal.","volume":"12","author":"Sim\u00f5es","year":"2017","journal-title":"PLoS One"},{"issue":"2 suppl 2","key":"R3-20230912","doi-asserted-by":"crossref","first-page":"S182","DOI":"10.1016\/j.jaci.2009.07.053","article-title":"Primary immunodeficiencies.","volume":"125","author":"Notarangelo","year":"2010","journal-title":"J Allergy Clin Immunol"},{"key":"R4-20230912","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1086\/345527","article-title":"Indications for the immunological evaluation of patients with meningitis.","volume":"36","author":"Overtuf","year":"2003","journal-title":"Clin Infect Dis"},{"key":"R5-20230912","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1007\/s10875-016-0275-4","article-title":"Novel mutations causing c5 deficiency in three north-african families.","volume":"36","author":"Colobran","year":"2016","journal-title":"J Clin Immunol"},{"key":"R6-20230912","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/bs.acc.2016.06.001","article-title":"Overview of laboratory testing and clinical presentations of complement deficiencies and dysregulation.","volume":"77","author":"Frazer-Abel","year":"2016","journal-title":"Adv Clin Chem"},{"key":"R7-20230912","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1128\/CMR.4.3.359","article-title":"Infectious diseases associated with complement deficiencies.","volume":"4","author":"Figueroa","year":"1991","journal-title":"Clin Microbiol Rev"},{"key":"R8-20230912","doi-asserted-by":"crossref","first-page":"98","DOI":"10.4161\/viru.26515","article-title":"Meningococcal disease and the complement system.","volume":"5","author":"Lewis","year":"2014","journal-title":"Virulence"},{"key":"R9-20230912","doi-asserted-by":"crossref","first-page":"1304","DOI":"10.1016\/j.imbio.2013.04.021","article-title":"Primary complement C5 deficiencies - molecular characterization and clinical review of two families.","volume":"218","author":"Schejbel","year":"2013","journal-title":"Immunobiology"},{"key":"R10-20230912","doi-asserted-by":"crossref","first-page":"15861","DOI":"10.1073\/pnas.0903613106","article-title":"Human genetic deficiencies reveal the roles of complement in the inflammatory network: lessons from nature.","volume":"106","author":"Lappeg\u00e5rd","year":"2009","journal-title":"Proc Natl Acad Sci U S A"},{"key":"R11-20230912","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1189\/jlb.0607376","article-title":"Role of the complement in experimental sepsis.","volume":"83","author":"Ward","year":"2008","journal-title":"J Leukoc Biol"},{"key":"R12-20230912","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1007\/s10875-013-9872-7","article-title":"C5 complement deficiency in a Saudi family, molecular characterization of mutation and literature review.","volume":"33","author":"Arnaout","year":"2013","journal-title":"J Clin Immunol"},{"key":"R13-20230912","doi-asserted-by":"crossref","first-page":"1331","DOI":"10.1093\/infdis\/jix143","article-title":"Strains responsible for invasive meningococcal disease in patients with terminal complement pathway deficiencies.","volume":"215","author":"Rosain","year":"2017","journal-title":"J Infect Dis"}],"container-title":["Pediatric Infectious Disease Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/00006454-201904000-00017","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,12]],"date-time":"2023-09-12T22:32:58Z","timestamp":1694557978000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/00006454-201904000-00017"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,4]]},"references-count":13,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2019]]}},"URL":"https:\/\/doi.org\/10.1097\/inf.0000000000002149","relation":{},"ISSN":["0891-3668"],"issn-type":[{"value":"0891-3668","type":"print"}],"subject":[],"published":{"date-parts":[[2019,4]]}}}