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Clinical and Diagnostic Laboratory Immunology, July 2004, p. 806-807, Vol. 11, No. 4
1071-412X/04/$08.00+0     DOI: 10.1128/CDLI.11.4.806-807.2004
Copyright © 2004, American Society for Microbiology. All Rights Reserved.

Association between Familial Deficiency of Mannose-Binding Lectin and Mutations in the Corresponding Gene and Promoter Region

M. M. M. Salimans,1* W. A. Bax,2 F. Stegeman,1 M. van Deuren,3 A. K. M. Bartelink,2 and H. van Dijk1,4

Departments of Medical Microbiology and Immunology,1 Internal Medicine, Meander Medical Centre, Amersfoort,2 Department of Internal Medicine, University Medical Centre Nijmegen, Nijmegen,3 Department of Medical Microbiology, University Medical Centre Utrecht, Utrecht, The Netherlands4

Received 9 February 2004/ Returned for modification 1 March 2004/ Accepted 27 April 2004

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 354:1094-1095, 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 353:1049-1053, 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 (<0.25 µg 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.

* Corresponding author. Mailing address: Department of Medical Microbiology and Immunology, Meander Medical Centre, Utrechtseweg 160, 3818 ES Amersfoort, The Netherlands. Phone: 31 (033) 4222969. Fax: 31 (033) 4222277. E-mail: m.salimans{at}meandermc.nl.

Clinical and Diagnostic Laboratory Immunology, July 2004, p. 806-807, Vol. 11, No. 4
1071-412X/04/$08.00+0     DOI: 10.1128/CDLI.11.4.806-807.2004
Copyright © 2004, American Society for Microbiology. All Rights Reserved.



This article has been cited by other articles:

  • Harrison, L. H. (2006). Prospects for Vaccine Prevention of Meningococcal Infection. Clin. Microbiol. Rev. 19: 142-164 [Abstract] [Full Text]  


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