播散性堪萨斯分枝杆菌感染在推定结核病和早期肺癌后显示GATA2单倍性不足。

IF 4.3 2区 医学 Q1 INFECTIOUS DISEASES
Chun-Hao Wang, Liang-En Hwang, Wang-Da Liu, Yu-Ting Yen, Jin-Shing Chen, Yih-Leong Chang, Ching-Kai Lin, Hung-Ming Chang, Aristine Cheng, Un-In Wu
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引用次数: 0

摘要

一名46岁的健康无症状女性在一次交通事故后偶然发现右肺混浊。组织学显示慢性肉芽肿性炎症,初步诊断为结核,治疗部分有效。一个持续的右上肺叶结节后来被证实为微创肺腺癌。楔形切除后,患者出现复发性发热、呼吸困难、体重减轻、白细胞减少和单核细胞减少。随后的PET显示明显的纵隔淋巴结病变,活检淋巴结和骨髓的分枝杆菌培养产生堪萨斯分枝杆菌。进一步的免疫评估发现b细胞和nk细胞缺乏,没有检测到抗干扰素自身抗体。基因检测发现了一种新的杂合GATA2突变,建立了单胞疟原虫综合征的诊断。值得注意的是,一位无症状的姐妹携带了相同的致病变异。本病例强调了在成人非典型分枝杆菌感染和细胞减少症患者中考虑GATA2单倍体功能不全的重要性。早期识别可以进行有针对性的感染监测,多系统评估,家庭遗传咨询,并在必要时制定最终的造血干细胞移植计划。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Disseminated Mycobacterium kansasii infection revealing GATA2 haploinsufficiency after presumed tuberculosis and early lung cancer.

A 46-year-old previously healthy and asymptomatic woman was incidentally found to have right lung opacities after a traffic accident. Histology revealed chronic granulomatous inflammation, leading to an initial diagnosis of tuberculosis with partial response to treatment. A persistent right upper lobe nodule was later confirmed as minimally invasive lung adenocarcinoma. Post-wedge resection, she developed recurrent fever, dyspnea, weight loss, leukopenia, and monocytopenia. Subsequent PET revealed marked mediastinal lymphadenopathy, and mycobacterial cultures of biopsied lymph nodes and bone marrow yielded Mycobacterium kansasii. Further immunologic evaluation identified B-cell and NK-cell deficiency without detectable anti-interferon-gamma autoantibodies. Genetic testing uncovered a novel heterozygous GATA2 mutation, establishing a diagnosis of MonoMAC syndrome. Notably, one asymptomatic sister carried the same pathogenic variant. This case highlights the importance of considering GATA2 haploinsufficiency in adults with atypical mycobacterial infections and cytopenias. Early recognition enables targeted infection surveillance, multi-system assessment, family genetic counseling, and definitive hematopoietic stem cell transplantation planning when indicated.

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来源期刊
CiteScore
18.90
自引率
2.40%
发文量
1020
审稿时长
30 days
期刊介绍: International Journal of Infectious Diseases (IJID) Publisher: International Society for Infectious Diseases Publication Frequency: Monthly Type: Peer-reviewed, Open Access Scope: Publishes original clinical and laboratory-based research. Reports clinical trials, reviews, and some case reports. Focuses on epidemiology, clinical diagnosis, treatment, and control of infectious diseases. Emphasizes diseases common in under-resourced countries.
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