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.
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.
Accepted for publication June 14, 2018.
The authors have no funding or conflicts of interest to disclose.
F.M. (medical doctor of the patient) wrote the paper; L.C.C, R.D., M.J.B., A.C., C.N., (medical doctor of the patient) reviewed the article; and J.F.N. (medical doctor of the patient) designed the research study and reviewed the article.
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Address for correspondence: Filipa Marujo, MD, Primary Immunodeficiencies Unit, Hospital Dona Estefania, Pediatric University Unit, Rua Jacinta Marto, 1169-045 Lisbon, Portugal. E-mail: email@example.com or firstname.lastname@example.org.