Martina Bevacqua, P. Bastard, Yael Pinhas, M. Aubart, Charles-Joris Roux, Muhamed-Kheir Taha, Jérémie F. Cohen
{"title":"重症脑膜炎球菌性脑膜炎揭示了一名 13 岁健康儿童的新型 Properdin 缺乏症。","authors":"Martina Bevacqua, P. Bastard, Yael Pinhas, M. Aubart, Charles-Joris Roux, Muhamed-Kheir Taha, Jérémie F. Cohen","doi":"10.1097/INF.0000000000004397","DOIUrl":null,"url":null,"abstract":"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.","PeriodicalId":118937,"journal":{"name":"The Pediatric Infectious Disease Journal","volume":" 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Severe Meningococcal Meningitis Revealing a Novel Form of Properdin Deficiency in a Previously Healthy 13-year-old Child.\",\"authors\":\"Martina Bevacqua, P. Bastard, Yael Pinhas, M. Aubart, Charles-Joris Roux, Muhamed-Kheir Taha, Jérémie F. Cohen\",\"doi\":\"10.1097/INF.0000000000004397\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"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.\",\"PeriodicalId\":118937,\"journal\":{\"name\":\"The Pediatric Infectious Disease Journal\",\"volume\":\" 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-05-10\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"The Pediatric Infectious Disease Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1097/INF.0000000000004397\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"The Pediatric Infectious Disease Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1097/INF.0000000000004397","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Severe Meningococcal Meningitis Revealing a Novel Form of Properdin Deficiency in a Previously Healthy 13-year-old Child.
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.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
