AUTHOR=Guo Wanru , Feng Xuewen , Hu Ming , Shangguan Yanwan , Xia Jiafeng , Hu Wenjuan , Li Xiaomeng , Zhang Zunjing , Shi Yunzhen , Xu Kaijin 

TITLE=The Application of Whole−Exome Sequencing in Patients With FUO

JOURNAL=Frontiers in Cellular and Infection Microbiology

VOLUME=11

YEAR=2022

URL=https://www.frontiersin.org/journals/cellular-and-infection-microbiology/articles/10.3389/fcimb.2021.783568

DOI=10.3389/fcimb.2021.783568

ISSN=2235-2988

ABSTRACT=<sec><title>Background</title><p>Fever of unknown origin (FUO) is still a challenge for clinicians. Next-generation sequencing technologies, such as whole exome sequencing (WES), can be used to identify genetic defects in patients and assist in diagnosis. In this study, we investigated the application of WES in individuals with FUO.</p></sec><sec><title>Methods</title><p>We performed whole-exome sequencing on 15 FUO patients. Clinical information was extracted from the hospital information system.</p></sec><sec><title>Results</title><p>In 7/15 samples, we found positive results, including potentially causative mutations across eight different genes: <italic>CFTR</italic>, <italic>CD209</italic>, <italic>IRF2BP2, ADGRV 1</italic>, <italic>TYK2</italic>, <italic>MEFV</italic>, <italic>THBD</italic> and <italic>GATA2</italic>.</p></sec><sec><title>Conclusions</title><p>Our results show that whole-exome sequencing can promote the genetic diagnosis and treatment of patients with FUO.</p></sec>