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

Filipa Marujo; Luís Carlos Costa; Regina Duarte; Maria João Brito; Ana Cordeiro; Conceição Neves; João Farela Neves

doi:10.1097/INF.0000000000002149

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

Filipa Marujo, Luís Carlos Costa, Regina Duarte, Maria João Brito, Ana Cordeiro, Conceição Neves, João Farela Neves

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Abstract

Although bacterial meningitis is a rare presentation of a congenital immunodeficiency, invasive meningococcal disease (IMD) is classicaly associated with complement deficiencies. We report a patient from a consanguineous kindred presenting with an IMD caused by serogroup B meningococcus that revealed an underlying C5 deficiency caused by a novel mutation in the C5 gene.

Original language	English
Pages (from-to)	416-418
Number of pages	3
Journal	Pediatric Infectious Disease Journal
Volume	38
Issue number	4
Early online date	31 Jul 2018
DOIs	https://doi.org/10.1097/INF.0000000000002149
Publication status	Published - 1 Apr 2019

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title = "Invasive Meningococcal Disease Unraveling a Novel Mutation in the C5 Gene in a Portuguese Family",

abstract = "Although bacterial meningitis is a rare presentation of a congenital immunodeficiency, invasive meningococcal disease (IMD) is classicaly associated with complement deficiencies. We report a patient from a consanguineous kindred presenting with an IMD caused by serogroup B meningococcus that revealed an underlying C5 deficiency caused by a novel mutation in the C5 gene.",

author = "Filipa Marujo and Costa, {Lu{\'i}s Carlos} and Regina Duarte and Brito, {Maria Jo{\~a}o} and Ana Cordeiro and Concei{\c c}{\~a}o Neves and Neves, {Jo{\~a}o Farela}",

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AU - Marujo, Filipa

AU - Costa, Luís Carlos

AU - Duarte, Regina

AU - Brito, Maria João

AU - Cordeiro, Ana

AU - Neves, Conceição

AU - Neves, João Farela

PY - 2019/4/1

Y1 - 2019/4/1

N2 - Although bacterial meningitis is a rare presentation of a congenital immunodeficiency, invasive meningococcal disease (IMD) is classicaly associated with complement deficiencies. We report a patient from a consanguineous kindred presenting with an IMD caused by serogroup B meningococcus that revealed an underlying C5 deficiency caused by a novel mutation in the C5 gene.

AB - Although bacterial meningitis is a rare presentation of a congenital immunodeficiency, invasive meningococcal disease (IMD) is classicaly associated with complement deficiencies. We report a patient from a consanguineous kindred presenting with an IMD caused by serogroup B meningococcus that revealed an underlying C5 deficiency caused by a novel mutation in the C5 gene.

U2 - 10.1097/INF.0000000000002149

DO - 10.1097/INF.0000000000002149

M3 - Article

C2 - 30067596

SN - 0891-3668

VL - 38

SP - 416

EP - 418

JO - Pediatric Infectious Disease Journal

JF - Pediatric Infectious Disease Journal

IS - 4

ER -

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

Abstract

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