Clinical Application of Metagenomic Next-Generation Sequencing for Suspected Infections in Patients With Primary Immunodeficiency Disease.

Clinical Application of Metagenomic Next-Generation Sequencing for Suspected Infections in Patients With Primary Immunodeficiency Disease.
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元基因组下一代测序的临床应用在原发性免疫缺陷疾病患者中可疑感染。

DOI:
10.3389/fimmu.2021.696403
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发表时间:
2021
影响因子:
7.3
通讯作者:
An Y
An Y
中科院分区:
医学2区
文献类型:
--
作者:
Tang W;Zhang Y;Luo C;Zhou L;Zhang Z;Tang X;Zhao X;An Y

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感染是原发性免疫缺陷病(PID)患者发病和死亡的主要原因。及时准确的微生物诊断对这些患者尤为重要。宏基因组下一代测序(mNGS)最近已被用于病原体检测。然而,很少有报告描述使用mNGS的病原体鉴定PID患者。评价mNGS检测PID患者病原体的实用性,并与常规微生物试验(CMT)进行比较。这项单中心回顾性研究调查了mNGS用于PID患者病原体检测的诊断性能,并将其与CMT进行了比较。入选了16例疑似感染的PID患者,并分析了病历,以提取详细的临床特征,如基因变异、免疫状态、微生物分布、mNGS和CMT的耗时、治疗和结局。mNGS对病原微生物的检出率为93.75%,高于培养法的31.25%和常规方法的68.75%,多检出18种病原微生物,包括罕见的机会致病菌和结核分枝杆菌。通过mNGS鉴定病原体需要48小时,而细菌培养需要3-7天,真菌和结核分枝杆菌培养甚至更长。在PID患者中,mNGS在病原学诊断,特别是机会性病原体和混合感染方面具有明显的优势。这种方法可能使临床医生能够做出更及时和有针对性的治疗决定,从而改善这些患者的预后。
Infections are the major cause of morbidity and mortality in patients with primary immunodeficiency disease (PID). Timely and accurate microbiological diagnosis is particularly important in these patients. Metagenomic next-generation sequencing (mNGS) has been used for pathogen detection recently. However, few reports describe the use of mNGS for pathogen identification in patients with PID. To evaluate the utility of mNGS for detecting pathogens in patients with PID, and to compare it with conventional microbiological tests (CMT). This single center retrospective study investigated the diagnostic performance of mNGS for pathogens detection in PID patients and compared it with CMT. Sixteen PID patients with suspected infection were enrolled, and medical records were analyzed to extract detailed clinical characteristics such as gene variation, immune status, microbial distribution, time-consuming of mNGS and CMT, treatment, and outcomes. mNGS identified pathogenic microbe in 93.75% samples, compared to 31.25% for culture and 68.75% for conventional methods, and detected an extra 18 pathogenic microorganisms including rare opportunistic pathogens and Mycobacterium tuberculosis. Pathogen identification by mNGS required 48 hours, compared with bacterial culture for 3-7 days and even longer for fungus and Mycobacterium tuberculosis culture. mNGS has marked advantages over conventional methods for pathogenic diagnosis, particularly opportunistic pathogens and mixed infections, in patients with PID. This method might enable clinicians to make more timely and targeted therapeutic decisions, thereby improving the prognosis of these patients.
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