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以多发性肺部感染为表现的古德综合征:一例涉及宏基因组测序诊断的病例报告

Good syndrome presenting with multiple pulmonary infections: a case report involving metagenomic sequencing diagnosis.

作者信息

Zeng Wenjing, Feng Xiaoyi, Liang Binmiao, Ou Xuemei

机构信息

Department of Pulmonary and Critical Care Medicine, West China Hospital, Sichuan University, Chengdu, China.

Department of Respiratory and Critical Care Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.

出版信息

Front Med (Lausanne). 2025 Aug 19;12:1649584. doi: 10.3389/fmed.2025.1649584. eCollection 2025.

DOI:10.3389/fmed.2025.1649584
PMID:40904363
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12401675/
Abstract

Good syndrome (GS), alternatively termed thymoma with immunodeficiency, is a rare adult-onset immunodeficiency disorder characterized by concurrent thymoma and hypogammaglobulinemia, accompanied by defects in both B-cell-mediated immunity and T-cell-mediated immunity. Owing to the non-specific clinical presentation, diagnosis is frequently delayed, resulting in poor prognosis and elevated mortality. In this study, we report the case of a 69-year-old man with GS who presented with symptoms of recurrent cough and productive sputum. Metagenomic next-generation sequencing (mNGS) of oropharyngeal swabs detected multiple microorganisms, including SARS-CoV-2 (35,047 reads), Epstein-Barr virus (7,236 reads), (3,674 reads), Bacillus spp. (3,284 reads), cytomegalovirus (1,203 reads), and herpes simplex virus type 1 (575 reads). Following a comprehensive clinical evaluation-including recurrent pulmonary infections, history of thymoma, and lymphopenia with immunodeficiency-the diagnosis of GS was confirmed. This patient received an intensified anti-infective regimen, with broad-spectrum carbapenem, meropenem, as the backbone therapy, combined with antifungal agents and antiviral treatment (IV ganciclovir and oral molnupiravir). After aggressive anti-infection therapy, the patient experienced clinical improvement, and chest CT demonstrated significant radiographic improvement. Although intravenous immunoglobulin (IVIG) is foundational in GS, intensive antimicrobial therapy is also critical for clinical outcomes.

摘要

古德综合征(GS),又称胸腺oma伴免疫缺陷,是一种罕见的成人发病免疫缺陷疾病,其特征为同时存在胸腺oma和低丙种球蛋白血症,伴有B细胞介导免疫和T细胞介导免疫缺陷。由于临床表现不具特异性,诊断常常延迟,导致预后不良和死亡率升高。在本研究中,我们报告了一例69岁患有GS的男性患者,其表现为反复咳嗽和咳痰症状。口咽拭子的宏基因组下一代测序(mNGS)检测到多种微生物,包括严重急性呼吸综合征冠状病毒2(SARS-CoV-2,35047条 reads)、爱泼斯坦-巴尔病毒(7236条 reads)、(3674条 reads)、芽孢杆菌属(3284条 reads)、巨细胞病毒(1203条 reads)和单纯疱疹病毒1型(575条 reads)。经过全面的临床评估,包括反复肺部感染、胸腺oma病史以及伴有免疫缺陷的淋巴细胞减少症,确诊为GS。该患者接受了强化抗感染方案,以广谱碳青霉烯类美罗培南作为主要治疗药物,联合抗真菌药物和抗病毒治疗(静脉注射更昔洛韦和口服莫努匹拉韦)。经过积极抗感染治疗后,患者临床症状改善,胸部CT显示影像学有显著改善。虽然静脉注射免疫球蛋白(IVIG)是GS的基础治疗,但强化抗菌治疗对临床结局也至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d44f/12401675/50a6d31dfa48/fmed-12-1649584-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d44f/12401675/340a7e8fb501/fmed-12-1649584-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d44f/12401675/50a6d31dfa48/fmed-12-1649584-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d44f/12401675/340a7e8fb501/fmed-12-1649584-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d44f/12401675/50a6d31dfa48/fmed-12-1649584-g002.jpg

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Recommendations from the 10th European Conference on Infections in Leukaemia for the management of cytomegalovirus in patients after allogeneic haematopoietic cell transplantation and other T-cell-engaging therapies.第十届欧洲白血病感染会议关于异基因造血细胞移植及其他T细胞接合疗法后患者巨细胞病毒管理的建议。
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Good syndrome combined with multiple microbial pulmonary infections: case report and review of the literature.古德综合征合并多种微生物肺部感染:病例报告及文献复习
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Relapse of COVID-19 and Viral Evolution in a Patient With Good Syndrome: A Case Report.一例Good综合征患者的新型冠状病毒肺炎复发及病毒进化:病例报告
Cureus. 2024 Jan 19;16(1):e52592. doi: 10.7759/cureus.52592. eCollection 2024 Jan.
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Good syndrome and cytomegalovirus retinitis: A literature review.Good 综合征与巨细胞病毒性视网膜炎:文献复习。
Surv Ophthalmol. 2024 May-Jun;69(3):418-426. doi: 10.1016/j.survophthal.2023.12.004. Epub 2024 Jan 2.
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Oral Molnupiravir and Nirmatrelvir/Ritonavir for the Treatment of COVID-19: A Literature Review with a Focus on Real-World Evidence.口服莫努匹拉韦和奈玛特韦/利托那韦治疗新冠肺炎:一项侧重于真实世界证据的文献综述
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