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

Filipa Marujo, Luís Carlos Costa, Regina Duarte, Maria João Brito, Ana Cordeiro, Conceição Neves, João Farela Neves

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

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

Original languageEnglish
Pages (from-to)416-418
Number of pages3
JournalPediatric Infectious Disease Journal
Volume38
Issue number4
Early online date31 Jul 2018
DOIs
Publication statusPublished - 1 Apr 2019

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