title: A case of familial meningococcal disease due to deficiency in mannose-binding lectin (MBL).
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.
authors.affiliation: Eijkman-Winkler Centre for Microbiology, Infectious Diseases and Inflammation, University Medical Centre, Utrecht, The Netherlands.
authors.forename: Saskia
authors.initials: S
authors.lastname: Kuipers
authors.forename: Piet C
authors.initials: PC
authors.lastname: Aerts
authors.forename: Onno J J
authors.initials: OJ
authors.lastname: Cluysenaer
authors.forename: Albert K M
authors.initials: AK
authors.lastname: Bartelink
authors.forename: R Alan B
authors.initials: RA
authors.lastname: Ezekowitz
authors.forename: Willem A
authors.initials: WA
authors.lastname: Bax
authors.forename: Marcel
authors.initials: M
authors.lastname: Salimans
authors.forename: Hans
authors.initials: H
authors.lastname: Vandyk
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D037582:Complement Pathway, Mannose-Binding Lectin / Q000235:genetics / Q000276:immunology*; D005260:Female; D006801:Humans; D008297:Male; D037601:Mannose-Binding Lectin / Q000097:blood / Q000172:deficiency* / Q000235:genetics; D008589:Meningococcal Infections / Q000235:genetics* / Q000276:immunology* / Q000378:metabolism; D008875:Middle Aged; D009154:Mutation / Q000235:genetics
chemical_list: D037601:Mannose-Binding Lectin