以播散性混合感染为特征的成人高IgE综合征1例并文献复习  

Hyper-IgE syndrome in adults characterized by disseminated mixed infection:a case report and literature review

作　　者：丘敏枝 张恒 吴迪 陈荣昌 陈善泽 王凌伟 Qiu Minzhi;Zhang Heng;Wu Di;Chen Rongchang;Chen Shanze;Wang Lingwei(Health Management Center,Shenzhen People′s Hospital(The Second Clinical Medical College,Jinan University the First Affiliated Hospital,Southern University of Science and Technology),Shenzhen 518020,China;Department of Respiratory and Critical Care Medicine,Shenzhen People′s Hospital(The Second Clinical Medical College,Jinan University the First Affiliated Hospital,Southern University of Science and Technology),Shenzhen Institute of Respiratory Diseases in Shenzhen People′s Hospital,Shenzhen 518020,China)

机构地区：[1]深圳市人民医院健康管理科南方科技大学第一附属医院暨南大学第二临床医学院,深圳518020 [2]深圳市人民医院呼吸与危重症医学科深圳市呼吸疾病研究所南方科技大学第一附属医院暨南大学第二临床医学院深圳市呼吸疾病重点实验室,深圳518020

出　　处：《中华结核和呼吸杂志》2022年第6期546-551,共6页Chinese Journal of Tuberculosis and Respiratory Diseases

基　　金：国家自然科学基金委青年基金(81803183)。

摘　　要：目的提高对以播散性感染为特征的高IgE综合征(HIES)的认识。方法回顾性分析深圳市人民医院1例以马尔尼菲篮状菌和金黄色葡萄球菌播散性感染为表现的HIES,总结其临床表现、实验室检查、基因检测、治疗过程及预后。以"高IgE综合征"和"Hyper-IgE syndrome"为关键词分别在万方数据库和Pubmed数据库检索并复习相关文献。结果患者男性,18岁,因"腰痛3周余,发热4 d"入院。体格检查示口腔有乳牙滞留,双肾区叩击痛、手指关节过展。血嗜酸性粒细胞、血总IgE明显升高。痰培养、支气管黏膜/左上臂坏死组织培养提示马尔尼菲篮状菌;肺泡灌洗液、左上臂坏死组织及右侧耳后脓肿穿刺液、肾脏引流液培养提示甲氧西林敏感金黄色葡萄球菌。CT提示双肺弥漫斑片及结节样影,左肺上叶空洞性病变,纵隔多发肿大淋巴结,双肾及肾周内感染性病变。全外显子测序提示患者存在STAT3突变,确诊HIES。检索到中英文文献19篇,涉及27例成人患者,确诊中位年龄23岁。常见皮肤感染(16/27)、湿疹(15/27)、IgE升高(26/27)、血嗜酸性粒细胞升高(17/27)和STAT3突变(11/27)。结论对于严重或播散性感染应警惕高IgE综合征。Objective To improve the awareness of hyper-IgE syndrome(HIES)characterized by disseminated infection.Methods We retrospectively analyzed a patient with HIES characterized by Talaromyces marneffei and Staphylococcus aureus mixed disseminated infection in Shenzhen People′s Hospital.The clinical manifestations,results of laboratory tests/genetic examinations,therapeutic strategies and prognosis were summarized.The keywords“hyper-lgE syndrome”were used to search and review the literature in Wanfang databases and Pubmed database.Results In February 2021,an 18-year-old male patient was admitted to our hospital with backache for over 3 weeks and fever for 4 days.Physical examination revealed deciduous teeth in the oral cavity,bilateral renal pain on percussion,and interphalangeal joint hyperextension.Laboratory studies demonstrated increased blood eosinophils and serum level of total IgE.Bacterial culture from bronchoscopic secretions,bronchial mucosa,and necrotic tissue from the left upper arm showed Talaromyces marneffei.Bacterial culture from alveolar lavage fluid,left upper arm necrotic tissue,puncture fluid of right retroauricular abscess and renal drainage fluid suggested methicillin-sensitive Staphylococcus aureus.The chest and abdominal CT revealed diffuse patchy and nodular lesions in bilateral lungs,cavitary lesions in the upper lobe of the left lung,multiple enlarged lymph nodes in the mediastinum,and infectious lesions within both kidneys and perirenal space.Furthermore,the patients was identified with STAT3 mutations by whole exome sequencing,which confirmed the diagnosis of HIES.Nineteen literature articles were retrieved,involving 27 adult patients with a median age of diagnosis of 23 years.The most common manifestations included:skin infection(16/27),eczema(15/27),elevated IgE(26/27)and eosinophils(17/27),as well as positive STAT3 mutation(11/27).Conclusion Clinicians should be alert to the possibility of hyper-IgE syndrome in patients with severe or disseminated intracellular bacterial infections

关 键 词：高IGE综合征 马尔尼菲篮状菌 金黄色葡萄球菌 嗜酸性粒细胞 

分 类 号：R593.3[医药卫生—内科学]