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Genetic diagnosis of inborn errors of immunity using clinical exome sequencing

Authors
 Soon Sung Kwon  ;  Youn Keong Cho  ;  Seungmin Hahn  ;  Jiyoung Oh  ;  Dongju Won  ;  Saeam Shin  ;  Ji-Man Kang  ;  Jong Gyun Ahn  ;  Seung-Tae Lee  ;  Jong Rak Choi 
Citation
 FRONTIERS IN IMMUNOLOGY, Vol.14 : 1178582, 2023-05 
Journal Title
FRONTIERS IN IMMUNOLOGY
Issue Date
2023-05
MeSH
Asian People* ; Exome Sequencing ; Humans ; Immune System Diseases* / genetics
Keywords
clinical exome sequencing ; genetic diagnosis ; inborn errors of immunity ; incidental finding ; next generation sequencing ; somatic variant
Abstract
Inborn errors of immunity (IEI) include a variety of heterogeneous genetic disorders in which defects in the immune system lead to an increased susceptibility to infections and other complications. Accurate, prompt diagnosis of IEI is crucial for treatment plan and prognostication. In this study, clinical utility of clinical exome sequencing (CES) for diagnosis of IEI was evaluated. For 37 Korean patients with suspected symptoms, signs, or laboratory abnormalities associated with IEI, CES that covers 4,894 genes including genes related to IEI was performed. Their clinical diagnosis, clinical characteristics, family history of infection, and laboratory results, as well as detected variants, were reviewed. With CES, genetic diagnosis of IEI was made in 15 out of 37 patients (40.5%). Seventeen pathogenic variants were detected from IEI-related genes, BTK, UNC13D, STAT3, IL2RG, IL10RA, NRAS, SH2D1A, GATA2, TET2, PRF1, and UBA1, of which four variants were previously unreported. Among them, somatic causative variants were identified from GATA2, TET2, and UBA4. In addition, we identified two patients incidentally diagnosed IEI by CES, which was performed to diagnose other diseases of patients with unrecognized IEI. Taken together, these results demonstrate the utility of CES for the diagnosis of IEI, which contributes to accurate diagnosis and proper treatments.
Files in This Item:
T202303245.pdf Download
DOI
10.3389/fimmu.2023.1178582
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Kang, Ji-Man(강지만) ORCID logo https://orcid.org/0000-0002-0678-4964
Kwon, Sun Sung(권순성)
Shin, Saeam(신새암) ORCID logo https://orcid.org/0000-0003-1501-3923
Ahn, Jong Gyun(안종균) ORCID logo https://orcid.org/0000-0001-5748-0015
Oh, Ji Young(오지영) ORCID logo https://orcid.org/0000-0003-3552-8465
Won, Dongju(원동주) ORCID logo https://orcid.org/0000-0002-0084-0216
Lee, Seung-Tae(이승태) ORCID logo https://orcid.org/0000-0003-1047-1415
Cho, Youn Keong(조윤경) ORCID logo https://orcid.org/0000-0002-7922-0473
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
Hahn, Seung Min(한승민) ORCID logo https://orcid.org/0000-0001-9832-6380
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/195436
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