Recidiverende meningokoksygdom hos kvinde med mutation i C8B-genet

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Abstract

This is a case report of recurrent meningococcal infection in a young woman. She had no positive microbiological findings but was serologically diagnosed with the meningococcal antibody test. Investigation of the complement system showed no function of the terminal pathway. Further genetical analysis revealed a pathogen mutation in the C8B gene in the patient and her sister. They were both immunised with meningococcal vaccines. Complement deficiencies are rare but potentially fatal. Workup for complement deficiency is important for correct acute and prophylactic treatment.

Bidragets oversatte titelRecurrent meningococcal infection in a young woman witha mutation in the C8B gene
OriginalsprogDansk
ArtikelnummerV02220113
Antal sider4
TidsskriftUgeskrift for laeger
Vol/bind184
StatusUdgivet - 6 jun. 2022

Emneord

  • Female
  • Humans
  • Meningitis, Meningococcal/diagnosis
  • Meningococcal Infections/diagnosis
  • Meningococcal Vaccines
  • Mutation
  • Neisseria meningitidis/genetics

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