Invasive Meningococcal Disease Unraveling a Novel Mutation in the C5 Gene in a Portuguese Family. Issue 4 (April 2019)

• Record Type: Journal Article
• Authors: Marujo, Filipa; Costa, Luís Carlos; Duarte, Regina; Brito, Maria João; Cordeiro, Ana; Neves, Conceição; Neves, João Farela
• Is Part Of: Pediatric infectious disease journal. Volume 38:Issue 4(2019)
• Publication Date: 2019-04
• Subjects: invasive meningococcal disease -- Neisseria meningitides -- complement component deficiencies -- C5 deficiency -- p.Tyr352Cys; Communicable diseases in children -- Periodicals; Infection in children -- Periodicals; 618.929
• DOI: 10.1097/INF.0000000000002149
• Languages: English
• ISSNs: 0891-3668

Abstract

Abstract : 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. Abstract : Supplemental Digital Content is available in the text.