Article
Deficient alternative complement pathway activation due to factor D deficiency by 2 novel mutations in the complement factor D gene in a family with meningococcal infections.
Blood - 15 Jun 2006
Sprong Tom, Roos Dirk, Weemaes Corry, Neeleman Chris, Geesing Christel L M, Mollnes Tom Eirik, van Deuren Marcel
Abstract excerpt
The complement system is an essential element in our innate defense against infections with Neisseria meningitidis. We describe 2 cases of meningococcal septic shock, 1 of them fatal, in 2 children of a Turkish family. In the surviving patient, alternative pathway activation was absent and factor D plasma concentrations were undetectable. Concentrations of mannose-binding lectin (MBL), C1q, C4 and C3, factor B,...
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