{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,13]],"date-time":"2023-10-13T17:43:37Z","timestamp":1697219017185},"reference-count":10,"publisher":"American Society for Microbiology","issue":"4","license":[{"start":{"date-parts":[[2004,7,1]],"date-time":"2004-07-01T00:00:00Z","timestamp":1088640000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.asm.org\/non-commercial-tdm-license"}],"content-domain":{"domain":["journals.asm.org"],"crossmark-restriction":true},"short-container-title":["Clin Vaccine Immunol"],"published-print":{"date-parts":[[2004,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>In a recent report, our group presented clinical research data supporting the role of mannose-binding lectin (MBL) deficiency in susceptibility to meningococcal disease (W. A. Bax, O. J. J. Cluysenaer, A. K. M. Bartelink, P. C. Aerts, R. A. B. Ezekowitz, and H. van Dijk, Lancet<jats:bold>354:<\/jats:bold>1094-1095, 1999). This association was reported earlier by Hibberd et al. (M. L. Hibberd, M. Sumiya, J. A. Summerfield, R. Booy, M. Levin, and the Meningococcal Research Group, Lancet<jats:bold>353:<\/jats:bold>1049-1053, 1999) but was not based on family data. Our study included three members of one family who had acquired meningococcal meningitis in early adulthood. The objective of the present study was to investigate whether the genotypes of the MBL gene in this family, analyzed by PCR, correlate with MBL concentrations. We found that genotype variants in the MBL gene and promoter region match the low functional MBL levels (&lt;0.25 \u03bcg of equivalents\/ml) in the sera of the three patients in this family and that a significant correlation between genotype MBL deficiency and meningococcal disease existed.<\/jats:p>","DOI":"10.1128\/cdli.11.4.806-807.2004","type":"journal-article","created":{"date-parts":[[2004,7,8]],"date-time":"2004-07-08T18:30:51Z","timestamp":1089311451000},"page":"806-807","update-policy":"http:\/\/dx.doi.org\/10.1128\/asmj-crossmark-policy-page","source":"Crossref","is-referenced-by-count":6,"title":["Association between Familial Deficiency of Mannose-Binding Lectin and Mutations in the Corresponding Gene and Promoter Region"],"prefix":"10.1128","volume":"11","author":[{"given":"M. M. M.","family":"Salimans","sequence":"first","affiliation":[{"name":"Departments of Medical Microbiology and Immunology"},{"name":"Internal Medicine, Meander Medical Centre, Amersfoort"},{"name":"Department of Internal Medicine, University Medical Centre Nijmegen, Nijmegen"},{"name":"Department of Medical Microbiology, University Medical Centre Utrecht, Utrecht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. A.","family":"Bax","sequence":"additional","affiliation":[{"name":"Departments of Medical Microbiology and Immunology"},{"name":"Internal Medicine, Meander Medical Centre, Amersfoort"},{"name":"Department of Internal Medicine, University Medical Centre Nijmegen, Nijmegen"},{"name":"Department of Medical Microbiology, University Medical Centre Utrecht, Utrecht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Stegeman","sequence":"additional","affiliation":[{"name":"Departments of Medical Microbiology and Immunology"},{"name":"Internal Medicine, Meander Medical Centre, Amersfoort"},{"name":"Department of Internal Medicine, University Medical Centre Nijmegen, Nijmegen"},{"name":"Department of Medical Microbiology, University Medical Centre Utrecht, Utrecht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"van Deuren","sequence":"additional","affiliation":[{"name":"Departments of Medical Microbiology and Immunology"},{"name":"Internal Medicine, Meander Medical Centre, Amersfoort"},{"name":"Department of Internal Medicine, University Medical Centre Nijmegen, Nijmegen"},{"name":"Department of Medical Microbiology, University Medical Centre Utrecht, Utrecht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. K. M.","family":"Bartelink","sequence":"additional","affiliation":[{"name":"Departments of Medical Microbiology and Immunology"},{"name":"Internal Medicine, Meander Medical Centre, Amersfoort"},{"name":"Department of Internal Medicine, University Medical Centre Nijmegen, Nijmegen"},{"name":"Department of Medical Microbiology, University Medical Centre Utrecht, Utrecht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"van Dijk","sequence":"additional","affiliation":[{"name":"Departments of Medical Microbiology and Immunology"},{"name":"Internal Medicine, Meander Medical Centre, Amersfoort"},{"name":"Department of Internal Medicine, University Medical Centre Nijmegen, Nijmegen"},{"name":"Department of Medical Microbiology, University Medical Centre Utrecht, Utrecht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"235","reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"crossref","first-page":"1094","DOI":"10.1016\/S0140-6736(99)02563-5","volume":"354","year":"1999","unstructured":"Bax, W. A., O. J. J. Cluysenaer, A. K. M. Bartelink, P. C. Aerts, R. A. B. Ezekowitz, and H. van Dijk. 1999. Association of familial deficiency of mannose-binding lectin and meningococcal disease. Lancet354:1094-1095.","journal-title":"Lancet"},{"key":"e_1_3_2_3_2","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1046\/j.1365-3083.1999.00473.x","volume":"49","year":"1999","unstructured":"Christiansen, O. B., D. C. Kilpatrick, V. Souter, K. Varming, S. Thiel, and J. C. Jens. 1999. Scand. J. Immunol.49:193-196.","journal-title":"Scand. J. Immunol."},{"key":"e_1_3_2_4_2","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1016\/S0140-6736(95)91559-1","volume":"346","year":"1995","unstructured":"Garred, P., H. O. Madsen, B. Hoffmann, and A. Svejgaard. 1995. Increased frequency of homozygosity of abnormal mannan-binding-protein alleles in patients with suspected immunodeficiency. 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