Characteristics of Endemic Mycoses Talaromyces marneffei Infection Associated with Inborn Errors of Immunity.

IF 7.2 2区 医学 Q1 IMMUNOLOGY
Shubin Xing, Zhenzhen Zhang, Cong Liu, Wenjing Zhang, Zhiyong Zhang, Xuemei Tang, Yongwen Chen, Wuyang He, Xiaodong Zhao, Yunfei An
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引用次数: 0

Abstract

Background: Talaromyces marneffei (T. marneffei) is an opportunistic pathogen that causes endemic mycoses, which could lead to multiple organ damage. Talaromycosis is frequently disregarded as an early cautionary sign of immune system disorders in non-HIV-infected children.

Objective: We conduct a comprehensive review of the genotypes and clinical features of talaromycosis in patients with IEI to enhance clinical awareness regarding T. marneffei as a potential opportunistic pathogen in individuals with immune deficiencies.

Methods: A systematic literature review was performed by searching PubMed, Cochrane Central Register of Controlled Trials, Web of Science, EMBASE, and Scopus. Data on IEI patients with talaromycosis, including genotypes and their immunological and clinical features, were collected.

Results: Fifty patients with talaromycosis and IEI were included: XHIM (30.0%), STAT3-LOF deficiency (20.0%), STAT1-GOF (20.0%), IL2RG (6.00%), IFNGR1 (6.0%), IL12RB1 (4.0%), CARD9 (4.0%), COPA (4.0%), ADA (2.0%), RELB deficiency (2.0%), and NFKB2 (2.0%). Common symptoms of respiratory (43/50, 86.0%), skin (17/50, 34.0%), lymph node (31/50, 62.0%), digestive (34/50, 68.0%), and hematologic (22/50, 44.0%) systems were involved. The CT findings of the lungs may include lymph node calcification (9/30), interstitial lesions (8/30), pulmonary cavities (8/30), or specific pathogens (4/30), which could be easily misdiagnosed as tuberculosis infection. Amphotericin B (26/43), Voriconazole (24/43) and Itraconazole (22/43) were used for induction therapy. Ten patients were treated with Itraconazole sequentially and prophylaxis. 68.0% (34/50) of patients were still alive, and 4.0% (2/50) of were lost to follow-up. The disseminated T. marneffei infection resulted in the deaths of 14 individuals.

Conclusions: The XHIM, STAT1-GOF, and STAT3-LOF demonstrated the highest susceptibility to talaromycosis, indicating the potential involvement of cellular immunity, IL-17 signaling, and the IL-12/IFN-γ axis in T. marneffei defense. T. marneffei infection may serve as an early warning indicator of IEI. For IEI patients suspected of T. marneffei, metagenomic next-generation sequencing (mNGS) could rapidly and effectively identify the causative pathogen. Prompt initiation of antifungal therapy is crucial for optimizing patient outcomes.

与先天性免疫错误有关的地方性真菌病马恩菲他拉氏酵母菌感染的特征》(Characteristics of Endemic Mycoses Talaromyces marneffei Infection Associated with Inborn Errors of Immunity)。
背景:马内菲他拉菌(T. marneffei)是一种机会性病原体,可引起地方性真菌病,导致多器官损伤。塔拉菌病作为非艾滋病毒感染儿童免疫系统紊乱的早期警示信号,常常被忽视:目的:我们对 IEI 患者中滑石霉菌病的基因型和临床特征进行了全面回顾,以提高临床上对马拉尼菲菌作为免疫缺陷患者潜在机会性病原体的认识:通过检索 PubMed、Cochrane Central Register of Controlled Trials、Web of Science、EMBASE 和 Scopus,进行了系统性文献综述。收集了患有滑石真菌病的 IEI 患者的数据,包括基因型及其免疫学和临床特征:结果:共纳入 50 名患有滑石真菌病和 IEI 的患者:XHIM(30.0%)、STAT3-LOF 缺乏(20.0%)、STAT1-GOF(20.0%)、IL2RG(6.00%)、IFNGR1(6.0%)、IL12RB1(4.0%)、CARD9(4.0%)、COPA(4.0%)、ADA(2.0%)、RELB 缺乏(2.0%)和 NFKB2(2.0%)。常见症状涉及呼吸系统(43/50,86.0%)、皮肤(17/50,34.0%)、淋巴结(31/50,62.0%)、消化系统(34/50,68.0%)和血液系统(22/50,44.0%)。肺部 CT 检查结果可能包括淋巴结钙化(9/30)、肺间质病变(8/30)、肺空洞(8/30)或特定病原体(4/30),这很容易被误诊为结核感染。在诱导治疗中使用了两性霉素 B(26/43)、伏立康唑(24/43)和伊曲康唑(22/43)。10 名患者先后接受了伊曲康唑治疗和预防治疗。68.0%的患者(34/50)仍然存活,4.0%的患者(2/50)失去了随访机会。马涅菲菌播散感染导致 14 人死亡:结论:XHIM、STAT1-GOF 和 STAT3-LOF 对滑真菌病的易感性最高,表明细胞免疫、IL-17 信号传导和 IL-12/IFN-γ 轴可能参与了马拉尼菲菌的防御。T.marneffei感染可作为IEI的早期预警指标。对于怀疑感染了 T. marneffei 的 IEI 患者,元基因组新一代测序(mNGS)可快速有效地确定致病病原体。及时启动抗真菌治疗对优化患者预后至关重要。
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来源期刊
CiteScore
12.20
自引率
9.90%
发文量
218
审稿时长
2 months
期刊介绍: The Journal of Clinical Immunology publishes impactful papers in the realm of human immunology, delving into the diagnosis, pathogenesis, prognosis, or treatment of human diseases. The journal places particular emphasis on primary immunodeficiencies and related diseases, encompassing inborn errors of immunity in a broad sense, their underlying genotypes, and diverse phenotypes. These phenotypes include infection, malignancy, allergy, auto-inflammation, and autoimmunity. We welcome a broad spectrum of studies in this domain, spanning genetic discovery, clinical description, immunologic assessment, diagnostic approaches, prognosis evaluation, and treatment interventions. Case reports are considered if they are genuinely original and accompanied by a concise review of the relevant medical literature, illustrating how the novel case study advances the field. The instructions to authors provide detailed guidance on the four categories of papers accepted by the journal.
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