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

Marujo, Filipa, MD*; Costa, Luís Carlos, MD*; Duarte, Regina, MD; Brito, Maria João, MD; Cordeiro, Ana, MD*; Neves, Conceição, MD*; Neves, João Farela, MD*,‡,§

The Pediatric Infectious Disease Journal: April 2019 - Volume 38 - Issue 4 - p 416–418
doi: 10.1097/INF.0000000000002149
Immunology Reports
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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.

Supplemental digital content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and PDF versions of this article on the journal’s website (www.pidj.com).

Address for correspondence: Filipa Marujo, MD, Primary Immunodeficiencies Unit, Hospital Dona Estefania, Pediatric University Unit, Rua Jacinta Marto, 1169-045 Lisbon, Portugal. E-mail: filipa.marujo10@gmail.com or filipa.marujo@chlc.min-saude.pt.

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