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

Pediatr Infect Dis J. 2019 Apr;38(4):416-418. doi: 10.1097/INF.0000000000002149.


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.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Complement C5 / deficiency*
  • Complement C5 / genetics
  • Family Health*
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Meningitis, Meningococcal / genetics*
  • Meningitis, Meningococcal / pathology*
  • Mutant Proteins / genetics
  • Mutant Proteins / metabolism
  • Neisseria meningitidis, Serogroup B / isolation & purification
  • Portugal


  • Complement C5
  • Mutant Proteins