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Adv Exp Med Biol. 2003;531:351-5.

A case of familial meningococcal disease due to deficiency in mannose-binding lectin (MBL).

Author information

1
Eijkman-Winkler Centre for Microbiology, Infectious Diseases and Inflammation, University Medical Centre, Utrecht, The Netherlands.

Abstract

A case of familial meningococcal meningitis is described, which involved a 18-year old boy, his mother, and his grandfather, from who all three suffered from meningococcal disease at about similar age (17-19 y), albeit with one or two generations in between. By studying the genetic variants of MBL, we found out that all three family members described carried the B, D variant mbl genes instead of the homozygous mbl A, A trait. Serum MBL levels within the family varied from <0.15 microgs per ml (for the B, D variant) up to 7.0 microgs per ml with 1.67 microgs per ml as mean serum level of a control population (n = 216); in the normal population, also incidental cases with serum levels of up to 16 (!) microg-equivalents per ml were observed, which occurred predominantly in elderly people and which are most likely to be explained by the acute-phase reactant behavior of MBL protein.

PMID:
12916805
DOI:
10.1007/978-1-4615-0059-9_29
[Indexed for MEDLINE]

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