2019
DOI: 10.1097/inf.0000000000002149
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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.

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Cited by 3 publications
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“…Complement deficiencies can be acquired or inherited, the latter being rarer occurring in 0.03% of the general population with frequencies depending on complement component and ethnicity (Lewis and Ram 2014). Mutations in any one of the terminal complement genes (C5, C6, C7, C8A, C8B, or C9) result in an autosomal recessive monogenic disorder leading to impaired function of the complement system and increased susceptibility to Nm infection (Table 1) (Arnold et al 2009;Barraso et al 2004Barraso et al , 2006Barraso et al , 2010Delgado-Cervino et al 2005; Dellepiane Fernie et al 1997;Figueroa et al 1993;Hobart et al 1998;Kaufmann et al 1993;Ki et al 2005;Kira et al 1998;Kojima et al 1998;Lee et al 1978;Lewis and Ram 2014;Marujo et al 2019;Nishizaka et al 1996a, b;Owen et al 2015;Parham et al 2007;Pfarr et al 2005;Platonov et al 1993;Saucedo et al 1995;Wang et al 1995;Wurzner et al 1995;Zhu et al 1998;Zoppi et al 1990). Patients with deficiencies of the terminal complement are characteristically distinct as they typically present with recurrent meningococcal infection, with lower mortality rates per episode (Figueroa and Densen 1991;Fijen et al 1999;Platonov et al 1993).…”
Section: Terminal Complement Deficienciesmentioning
confidence: 99%
“…Complement deficiencies can be acquired or inherited, the latter being rarer occurring in 0.03% of the general population with frequencies depending on complement component and ethnicity (Lewis and Ram 2014). Mutations in any one of the terminal complement genes (C5, C6, C7, C8A, C8B, or C9) result in an autosomal recessive monogenic disorder leading to impaired function of the complement system and increased susceptibility to Nm infection (Table 1) (Arnold et al 2009;Barraso et al 2004Barraso et al , 2006Barraso et al , 2010Delgado-Cervino et al 2005; Dellepiane Fernie et al 1997;Figueroa et al 1993;Hobart et al 1998;Kaufmann et al 1993;Ki et al 2005;Kira et al 1998;Kojima et al 1998;Lee et al 1978;Lewis and Ram 2014;Marujo et al 2019;Nishizaka et al 1996a, b;Owen et al 2015;Parham et al 2007;Pfarr et al 2005;Platonov et al 1993;Saucedo et al 1995;Wang et al 1995;Wurzner et al 1995;Zhu et al 1998;Zoppi et al 1990). Patients with deficiencies of the terminal complement are characteristically distinct as they typically present with recurrent meningococcal infection, with lower mortality rates per episode (Figueroa and Densen 1991;Fijen et al 1999;Platonov et al 1993).…”
Section: Terminal Complement Deficienciesmentioning
confidence: 99%