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

作者全名："Tang, Wenjing; Zhang, Yu; Luo, Chong; Zhou, Lina; Zhang, Zhiyong; Tang, Xuemei; Zhao, Xiaodong; An, Yunfei"

作者地址："[Tang, Wenjing; Zhang, Yu; Luo, Chong; Zhang, Zhiyong; Tang, Xuemei; Zhao, Xiaodong; An, Yunfei] Chongqing Med Univ, Dept Rheumatol & Immunol, Childrens Hosp, Chongqing, Peoples R China; [Zhou, Lina; Zhao, Xiaodong; An, Yunfei] Chongqing Med Univ, Key Lab Child Dev & Disorders, Minist Educ, Childrens Hosp, Chongqing, Peoples R China; [Zhou, Lina; Zhao, Xiaodong; An, Yunfei] Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders, Childrens Hosp, Chongqing, Peoples R China; [Zhou, Lina; Zhao, Xiaodong; An, Yunfei] Chongqing Med Univ, China Int Sci & Technol Cooperat Base Child Dev &, Childrens Hosp, Chongqing, Peoples R China; [Zhou, Lina; Zhao, Xiaodong; An, Yunfei] Chongqing Med Univ, Chongqing Key Lab Child Infect & Immun, Childrens Hosp, Chongqing, Peoples R China"

通信作者："An, YF (corresponding author), Chongqing Med Univ, Dept Rheumatol & Immunol, Childrens Hosp, Chongqing, Peoples R China.; An, YF (corresponding author), Chongqing Med Univ, Key Lab Child Dev & Disorders, Minist Educ, Childrens Hosp, Chongqing, Peoples R China.; An, YF (corresponding author), Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders, Childrens Hosp, Chongqing, Peoples R China.; An, YF (corresponding author), Chongqing Med Univ, China Int Sci & Technol Cooperat Base Child Dev &, Childrens Hosp, Chongqing, Peoples R China.; An, YF (corresponding author), Chongqing Med Univ, Chongqing Key Lab Child Infect & Immun, Childrens Hosp, Chongqing, Peoples R China."

来源：FRONTIERS IN IMMUNOLOGY

ESI学科分类：IMMUNOLOGY

WOS号：WOS:000698539600001

JCR分区：Q1

影响因子：7.3

年份：2021

卷号：12

期号：　

开始页：　

结束页：　

文献类型：Article

关键词：metagenomic next-generation sequencing; infection; diagnosis; primary immunodeficiency disease; conventional microbiological tests

摘要："Background 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. Objective To evaluate the utility of mNGS for detecting pathogens in patients with PID, and to compare it with conventional microbiological tests (CMT). Methods 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. Results 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. Conclusions 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."

基金机构：Natural Science Foundation of ChinaNational Natural Science Foundation of China (NSFC) [82001655]

基金资助正文：We are grateful to all the children and their families who took part in the study. This work was supported by the Natural Science Foundation of China (Grant Number 82070135); Natural Science Foundation of China (Grant Number 82001655); Chongqing Science and Technology Commission Children's Gene Modification and Gene Editing Innovation Platform.