Laboratory of Immunology, Hôpital européen Georges-Pompidou, Assistance Publique-Hôpitaux de Paris (AP-HP).
Institut Pasteur, Invasive Bacterial Infection and National Reference Center for Meningococci.
J Infect Dis. 2017 Apr 15;215(8):1331-1338. doi: 10.1093/infdis/jix143.
Patients with terminal complement pathway deficiency (TPD) are susceptible to recurrent invasive meningococcal disease (IMD). Neisseria meningitidis (Nm) strains infecting these patients are poorly documented in the literature.
We identified patients with TPD and available Nm strains isolated during IMD. We investigated the genetic basis of the different TPDs and the characteristics of the Nm strains.
We included 56 patients with C5 (n = 8), C6 (n = 20), C7 (n = 18), C8 (n = 9), or C9 (n = 1) deficiency. Genetic study was performed in 47 patients and 30 pathogenic variants were identified in the genes coding for C5 (n = 4), C6 (n = 5), C7 (n = 12), C8 (n = 7), and C9 (n = 2). We characterized 61 Nm strains responsible for IMD in the 56 patients with TPD. The most frequent strains belonged to groups Y (n = 27 [44%]), B (n = 18 [30%]), and W (n = 8 [13%]). Hyperinvasive clonal complexes (CC11, CC32, CC41/44, and CC269) were responsible for 21% of IMD cases. The CC23 predominates and represented 26% of all invasive isolates. Eleven of the 15 clonal complexes identified fit to 12 different clonal complexes belonging to carriage strains.
Unusual meningococcal strains with low level of virulence similar to carriage strains are most frequently responsible for IMD in patients with TPD.
终末补体途径缺陷(TPD)患者易发生侵袭性脑膜炎奈瑟菌病(IMD)复发。文献中对感染这些患者的脑膜炎奈瑟氏菌(Nm)菌株的记载很少。
我们确定了 TPD 患者和 IMD 期间分离出的可用 Nm 菌株。我们研究了不同 TPD 的遗传基础和 Nm 菌株的特征。
我们纳入了 56 名 C5(n = 8)、C6(n = 20)、C7(n = 18)、C8(n = 9)或 C9(n = 1)缺陷患者。对 47 名患者进行了基因研究,发现 30 种致病性变异存在于编码 C5(n = 4)、C6(n = 5)、C7(n = 12)、C8(n = 7)和 C9(n = 2)的基因中。我们对 56 名 TPD 患者中 61 株引起 IMD 的 Nm 菌株进行了特征描述。最常见的菌株属于 Y 组(n = 27 [44%])、B 组(n = 18 [30%])和 W 组(n = 8 [13%])。高度侵袭性克隆复合体(CC11、CC32、CC41/44 和 CC269)导致 21%的 IMD 病例。CC23 占主导地位,占所有侵袭性分离株的 26%。确定的 15 个克隆复合体中的 11 个与携带菌株的 12 个不同克隆复合体相吻合。
与携带菌株相似,毒力较低的不常见脑膜炎奈瑟菌菌株最常引起 TPD 患者的 IMD。