Martina Bevacqua, P. Bastard, Yael Pinhas, M. Aubart, Charles-Joris Roux, Muhamed-Kheir Taha, Jérémie F. Cohen
{"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}
引用次数: 0
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.