Recurrent pyogenic infections caused by a novel Gln1420* mutation in the C3 gene.

由 C3 基因中的新型 Gln1420 * 突变引起的复发性化脓性感染。

• 影响指数: 3.569
• 发表时间: 2022
• 来源期刊: Front Pediatr
• DOI: 10.3389/fped.2022.1017195
• PMID: 36299691
• 文章类型: Case Reports
• 中科院分区: Q3
• 方向: 医学
• 作者列表: Coelho PS,Gouveia C,Pinto MV,Neves C,Cordeiro AI,Neves JF,Coelho PS,Gouveia C,Pinto MV,Neves C,Cordeiro AI,Neves JF

关键词: C3 deficiency; C3 gene mutation; complement deficiency; primary immunodeficiency; recurrent infections; C3 deficiency; C3 gene mutation; complement deficiency; primary immunodeficiency; recurrent infections

Abstract

C3 is a crucial protein of the complement system. Congenital C3 deficiency is extremely rare and manifests through recurrent, severe infections and should always be considered as a differential diagnosis of recurrent pyogenic infections. We report a case of a patient with a novel C3 gene mutation, responsible for complete C3 deficiency with impaired complement system activation and recurrent infections.

摘要

C3是补体系统的关键蛋白质。先天性C3缺乏症极为罕见，表现为反复发作，严重感染，应始终被视为复发性化脓性感染的鉴别诊断。我们报道了一个新的C3基因突变的病人，负责补体系统激活受损和复发性感染的完全C3缺乏。