CARD9基因患者轮枝镰刀菌致面部感染一例  

Facial cutaneous infection caused by Fusarium verticillioides in a Chinese patient with CARD9 deficiency: a case report

作　　者：张为粼 孙乐乐[1] 暴芳芳[1] 于功奇[1] 王真真[1] 王川[1] 杨青[1] 刘红[1] 张福仁[1] ZHANG Weilin;SUN Lele;BAO Fangfang;YU Gongqi;WANG Zhenzhen;WANG Chuan;YANG Qing;LIU Hong;ZHANG Furen(Shandong Provincial Hospital for Skin Diseases&Shandong Provincial Institute of Dermatology and Venerology,Shandong First Medical University&Shandong Academy of Medical Sciences,Jinan 250022,China)

机构地区：[1]山东第一医科大学附属皮肤病医院(山东省皮肤病医院),山东省皮肤病性病防治研究所,济南250022

出　　处：《中国麻风皮肤病杂志》2023年第7期485-492,共8页China Journal of Leprosy and Skin Diseases

基　　金：山东省皮肤性病学临床医学研究中心。

摘　　要：目的:本文报道1例面部长期慢性感染的患者,对其病原体进行培养鉴定,明确病原菌以诊断、治疗,并检测患者是否存在先天免疫缺陷。方法:对患者皮损进行病理检查、真菌和细菌培养、菌株测序,测序结果在Genebank及Westerdijk Fungal Biodiversity Institute网站中进行比对,鉴定菌种;对患者行全外显子测序筛选致病突变,发现的致病突变进行Sanger测序验证。结果:患者感染菌种为轮枝镰刀菌(Fusarium verticillioides),诊断为局限性皮肤轮枝镰刀菌感染,经伊曲康唑口服治疗后好转。测序结果显示患者携带CARD9基因纯合移码突变(c.820_821insG,p.D274Gfs*61)。结论:本文首次报道了一例局限性皮肤轮枝镰刀菌感染伴CARD9缺陷的病例,丰富了CARD9缺陷疾病的表型谱,提示长期慢性感染的患者应考虑基因缺陷的可能。Objective:To identify the pathogen in a patient with long-term chronic facial infection and whether the patient has innate immunodeficiency.Methods:The lesions of the patients were collected,and biopsy,fungal culture,bacterial culture,strain sequencing were performed.The sequencing results were compared in Genebank and the Westerdijk Fungal Biodiversity Institute website to identify the strains.Whole exome sequencing was performed on the patient to screen for pathogenic mutations,and the found pathogenic mutations were further verified by Sanger sequencing.Results:The patient was infected with Fusarium verticillioides,which was diagnosed as localized skin Fusarium verticillioides infection,and the lesion recovered after oral administration of itraconazole.The sequencing results showed that the patient carried a homozygous frameshift mutation of CARD9 gene(c.820_821insG,p.D274Gfs*61).Conclusion:This is the first report of a case of localized skin Fusarium moniliforme infection with CARD9 deficiency,which enriches the phenotype spectrum of CARD9 deficiency diseases and suggests that patients with long-term chronic infection should consider the possibility of genetic defects.

关 键 词：轮枝镰刀菌 测序 皮肤感染 

分 类 号：R446.5[医药卫生—诊断学]