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.
作者
姚亚男
吕雪盈
李文敏
袁凯旋
廖亚龙
张娟
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)
出处
《中国真菌学杂志》
CSCD
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)。
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
X-linked higher-immunoglobulin M syndrome
Talaromyces marneffei
infant
genotype
metagenomics next-generation sequencing technology