Show simple item record

dc.contributor.authorEgan, L. J.
dc.contributor.authorOrren, A.
dc.contributor.authorDoherty, J.
dc.contributor.authorWürzner, R.
dc.contributor.authorMcCarthy, C. F.
dc.date.accessioned2018-08-24T08:24:40Z
dc.date.available2018-08-24T08:24:40Z
dc.date.issued1994-10-01
dc.identifier.citationEgan, L. J. Orren, A.; Doherty, J.; Würzner, R.; McCarthy, C. F. (1994). Hereditary deficiency of the seventh component of complement and recurrent meningococcal infection: investigations of an irish family using a novel haemolytic screening assay for complement activity and c7 m/n allotyping. Epidemiology and Infection 113 (2), 275-281
dc.identifier.issn0950-2688,1469-4409
dc.identifier.urihttp://hdl.handle.net/10379/9098
dc.description.abstractTerminal complement component deficiency predisposes to meningococcal infection and is inherited in an autosomal co-dominant manner. An Irish family is described, in which 2 of 3 brothers had recurrent meningococcal infection. A novel screening assay was used to investigate for terminal complement deficiency and the 2 affected brothers were found to be completely deficient in the seventh component of complement (C7). Enzyme-linked immunosorbent assay for C7 revealed lower than normal levels in the remaining brother and parents. C7 M/N protein polymorphism allotyping, used to investigate the segregation of the C7 deficiency genes, showed that the apparently complement sufficient brother was heterozygous C7 deficient and a carrier of one of the deficiency genes. Complement screening should be carried out in any individual suffering recurrent meningococcal infection or infection with an uncommon meningococcal serogroup. Identification of complement deficient patients allows the implementation of strategies to prevent recurrent infection.
dc.publisherCambridge University Press (CUP)
dc.relation.ispartofEpidemiology and Infection
dc.subjectneisseria-meningitidis
dc.subjectprotein polymorphism
dc.subjectantibody
dc.subjectc6
dc.subjectindividuals
dc.subjectdisease
dc.subjectc6-deficient
dc.subjectserogroups
dc.titleHereditary deficiency of the seventh component of complement and recurrent meningococcal infection: investigations of an irish family using a novel haemolytic screening assay for complement activity and c7 m/n allotyping
dc.typeArticle
dc.identifier.doi10.1017/s0950268800051700
dc.local.publishedsourcehttp://europepmc.org/articles/pmc2271528?pdf=render
nui.item.downloads0


Files in this item

This item appears in the following Collection(s)

Show simple item record