From the Department of General Pediatrics and Pediatric Infectious Diseases.
Pediatric Hematology-Immunology and Rheumatology Unit, Necker-Enfants Malades Hospital, APHP, Université Paris Cité.
Pediatr Infect Dis J. 2024 Aug 1;43(8):e282-e284. doi: 10.1097/INF.0000000000004397. Epub 2024 May 10.
A 13-year-old boy was admitted with severe meningococcal meningitis. Immunologic workup revealed a properdin deficiency, and genetic sequencing of CFP identified a novel, private and predicted pathogenic variant in exon 8. The patient received broad immunizations and penicillin prophylaxis. Children with invasive meningococcal disease should be tested for complement deficiency.
一名 13 岁男孩因严重的脑膜炎球菌脑膜炎入院。免疫检查显示调理素缺乏,CFP 的基因测序显示外显子 8 中存在一种新的、私有且预测致病性的变异。该患者接受了广泛的免疫接种和青霉素预防。患有侵袭性脑膜炎球菌病的儿童应检测补体缺乏症。