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

Autor: Saskia, Kuipers, Piet C, Aerts, Onno J J, Cluysenaer, Albert K M, Bartelink, R Alan B, Ezekowitz, Willem A, Bax, Marcel, Salimans, Hans, Vandyk
Rok vydání: 2003
Předmět:
Zdroj: Advances in experimental medicine and biology. 531
ISSN: 0065-2598
Popis: 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 from0.15 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.
Databáze: OpenAIRE