以马尔尼菲篮状菌肺炎起病的X连锁高IgM综合征婴儿1例  

A case report of X-linked high immunoglobulin M syndrome infant with Marneffei pneumonia

作　　者：姚亚男 吕雪盈 李文敏[1] 袁凯旋 廖亚龙 张娟[1] 肖伟欢 YAO Yanan;LV Xueying;LI Wenmin;YUAN Kaixuan;LIAO Yalong;ZHANG Juan;XIAO Weihuan(Laboratory Department,Guangdong Provincial People’s Hospital,Guangdong Academy of Medical Sciences,Southern Medical University,Guangzhou 510080,China;Yunkang School of Medicine and Health,Nanfang College,Guangzhou 510900,China)

机构地区：[1]南方医科大学附属广东省人民医院(广东省医学科学院)检验科,广州510080 [2]广州南方学院,广州510900

出　　处：《中国真菌学杂志》2024年第2期173-176,共4页Chinese Journal of Mycology

基　　金：广东省医学科学技术研究基金项目(A2024108)。

摘　　要：X连锁高IgM综合征(X-linked hyper-immunoglobulin M syndrome,XHIGM)是罕见的原发性免疫缺陷病,该病以反复感染为特征,易感染机会致病微生物。临床上以马尔尼菲篮状菌肺炎起病的XHIGM更为罕见。该文回顾性分析1例以马尔尼菲篮状菌肺炎起病的X连锁高IgM综合征婴儿的临床资料,实验室、影像学检查结果和诊疗经过并探讨其基因型,结合最新文献复习,以提高对该疾病的认识。X-linked hyper-immunoglobulin M syndrome(XHIGM)is a rare primary immunodeficiency disease characterized by recurrent infection and susceptibility to opportunistic pathogenic microorganisms.XHIGM,which starts clinically with Marneffei pneumonia is even rarer.Therefore,this article retrospectively analyzes the clinical data,laboratory and imaging examination results,diagnosis and treatment,and explores the genotype of a case of X-linked hyper-immunoglobulin M syndrome infant started with Marneffei pneumonia.In combination with the latest literature review,we aim to improve clinical physicians'understanding of the disease.

关 键 词：X连锁高IgM综合征 马尔尼菲篮状菌 婴儿 基因型 宏基因组学第二代测序技术 

分 类 号：R519.8[医药卫生—内科学]