Browsing by Author "Costa, LC"
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- Invasive Meningococcal Disease Unraveling a Novel Mutation in the C5 Gene in a Portuguese FamilyPublication . Marujo, F; Costa, LC; Duarte, R; Brito, MJ; Cordeiro, A; Neves, C; Neves, JFAlthough 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.