From the Primary Immunodeficiencies Unit, Hospital Dona Estefânia- CHLC, EPE.
Plastic Surgery Unit, Hospital Dona Estefânia- CHLC, EPE.
Pediatr Infect Dis J. 2019 Apr;38(4):416-418. doi: 10.1097/INF.0000000000002149.
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.
虽然细菌性脑膜炎是先天性免疫缺陷的罕见表现，但侵袭性脑膜炎球菌病通常与补体缺陷有关。我们报告了一例来自近亲结婚家族的患者，该患者患有由 B 群脑膜炎球菌引起的侵袭性脑膜炎球菌病，该疾病是由 C5 基因中的新突变引起的 C5 缺乏所致。
