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

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

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From the Primary Immunodeficiencies Unit, Hospital Dona Estefânia- CHLC, EPE.
Plastic Surgery Unit, Hospital Dona Estefânia- CHLC, EPE.
Infectious Diseases Unit, Hospital Dona Estefânia- CHLC, EPE.
CEDOC, Chronic Diseases Research Center, NOVA Medical School, Lisboa, Portugal.


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.

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