标题：以UNC13D基因突变所致的家族性噬血细胞综合征伴EB病毒感染一例

      作者：杨璐 1，2，游静茹 1，2，白海 2，周进茂 2，张君玲 2    1.甘肃中医药大学第一临床医学院，甘肃 兰州 730050；2.中国人民解放军联勤保障部队第九四〇医院血液科，甘肃 兰州 730050

      卷次： 2023年34卷2期

      【摘要】 噬血细胞综合征(HLH)是一类过度炎症反应综合征，临床表现错综复杂，病情进展快且致死率较高，误诊漏诊率较高，故临床诊断、治疗十分重要。本文报道1例以UNC13D基因突变所致的家族性噬血细胞综合征伴EB病毒感染患者的发病情况、诊疗经过，并复习相关文献，为临床诊断、治疗提供参考。
      【关键词】 家族性噬血细胞综合征；UNC13D；基因突变；EB病毒感染；发热
      【中图分类号】 R442.8 【文献标识码】 D 【文章编号】 1003—6350（2023）02—0275—04

A case of familial hemophagocytic lymphohistiocytosis with Epstein-Barr virus infection caused by UNC13Dgene mutation.
YANG Lu 1, 2, YOU Jing-ru 1, 2, BAI Hai 2, ZHOU Jin-mao 2, ZHANG Jun-ling 2. 1. First School of ClinicalMedicine, Gansu University of Traditional Chinese Medicine, Lanzhou 730050, Gansu, CHINA; 2. Department of Hematology,the 940th Hospital of Joint Logistics Support force of Chinese People's Liberation Army, Lanzhou 730050, Gansu, CHINA【Abstract】 Hemophagocytic lymphohistiocytosis (HLH) is a kind of hyperinflammatory response syndromewith complex clinical manifestations, rapid progression, high mortality, and high misdiagnosis and missed diagnosis rate.Therefore, clinical diagnosis and treatment of the disease are very important. This paper reports the incidence and diag-nosis of a case of familial HLH with EB virus infection caused by UNC13D gene mutation, and reviews relevant litera-ture to provide reference for clinical diagnosis and treatment.
      【Key words】 Familial hemophagocytic lymphohistiocytosis; UNC13D; Gene mutation; EB virus infection; Fever　　　·个案报道·doi:10.3969/j.issn.1003-6350.2023.02.029基金项目：甘肃省科技重大专项资助项目(编号：1102FKDA005)。第一作者：杨璐(1993—)，女,在读研究生,主要研究方向为血液系统疾病相关诊疗。