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

Marujo, FCosta, LCDuarte, RBrito, MJCordeiro, ANeves, CNeves, JF2021-04-302021-04-302019Pediatr Infect Dis J . 2019 Apr;38(4):416-418http://hdl.handle.net/10400.17/3678Although 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.engChildComplement C5FemaleHumansMeningitis, MeningococcalMutant ProteinsNeisseria meningitidis, Serogroup BPortugalFamily HealthGenetic Predisposition to DiseaseHDE INF PEDHDE PEDHDE CIR PEDInvasive Meningococcal Disease Unraveling a Novel Mutation in the C5 Gene in a Portuguese Familyjournal article10.1097/INF.0000000000002149