Invasive Meningococcal Disease Unraveling a Novel Mutation in the C5 Gene in a Portuguese Family

Marujo, F; Costa, LC; Duarte, R; Brito, MJ; Cordeiro, A; Neves, C; Neves, JF

http://hdl.handle.net/10400.17/3678

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Abstract(s)

Although bacterial meningitis is a rare presentation of a congenital immunodeficiency, invasive meningococcal disease is classically associated with complement deficiencies. We report a patient from a consanguineous kindred presenting with an invasive meningococcal disease caused by serogroup B meningococcus that revealed an underlying C5 deficiency caused by a novel mutation in the C5 gene.

Keywords

Child Complement C5 Female Humans Meningitis, Meningococcal Mutant Proteins Neisseria meningitidis, Serogroup B Portugal Family Health Genetic Predisposition to Disease HDE INF PED HDE PED HDE CIR PED