Genetic diagnosis of inborn errors of immunity using clinical exome sequencing (vol 14, 1178582, 2023)

被引:0
作者
Kwon, Soon Sung [1 ]
Cho, Youn Keong [1 ]
Hahn, Seungmin [2 ]
Oh, Jiyoung [3 ]
Won, Dongju [1 ]
Shin, Saeam [1 ]
Kang, Ji-Man [4 ,5 ]
Ahn, Jong Gyun [4 ,5 ]
Lee, Seung-Tae [1 ,6 ]
Choi, Jong Rak [1 ,6 ]
机构
[1] Yonsei Univ, Dept Lab Med, Coll Med, Seoul, South Korea
[2] Yonsei Univ, Severance Hosp,Coll Med, Yonsei Canc Ctr, Dept Pediat Hemato Oncol, Seoul, South Korea
[3] Yonsei Univ, Severance Childrens Hosp, Dept Pediat,Coll Med, Div Clin Genet, Seoul, South Korea
[4] Yonsei Univ, Severance Childrens Hosp, Dept Pediat, Coll Med, Seoul, South Korea
[5] Yonsei Univ, Inst Immunol & Immunol Dis, Coll Med, Seoul, South Korea
[6] Dxome, Seoul, South Korea
关键词
inborn errors of immunity; next generation sequencing; clinical exome sequencing; genetic diagnosis; somatic variant; incidental ?nding;
D O I
10.3389/fimmu.2023.1235318
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
引用
收藏
页数:2
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共 40 条
[31]   Application of rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseases (vol 16, 1526077, 2025) [J].
Ouyang, Xuejun ;
Chi, Dazhi ;
Zhang, Yu ;
Yu, Tian ;
Zhang, Qian ;
Xu, Lei ;
Zhang, Victor Wei ;
Wang, Bin .
FRONTIERS IN GENETICS, 2025, 16
[32]   Application of rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseases (vol 16, 1592212, 2025) [J].
Ouyang, Xuejun ;
Chi, Dazhi ;
Zhang, Yu ;
Yu, Tian ;
Zhang, Qian ;
Xu, Lei ;
Zhang, Victor Wei ;
Wang, Bin .
FRONTIERS IN GENETICS, 2025, 16
[33]   Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers [J].
Elsink, Kim ;
Huibers, Manon M. H. ;
Hollink, Iris H. I. M. ;
Simons, Annet ;
Zonneveld-Huijssoon, Evelien ;
van der Veken, Lars T. ;
Leavis, Helen L. ;
Henriet, Stefanie S. V. ;
van Deuren, Marcel ;
van de Veerdonk, Frank L. ;
Potjewijd, Judith ;
Berghuis, Dagmar ;
Dalm, Virgil A. S. H. ;
Vermont, Clementien L. ;
van de Ven, Annick A. J. M. ;
Lambeck, Annechien J. A. ;
Abbott, Kristin M. ;
van Hagen, P. Martin ;
de Bree, Godelieve J. ;
Kuijpers, Taco W. ;
Frederix, Geert W. J. ;
van Gijn, Marielle E. ;
van Montfrans, Joris M. .
FRONTIERS IN IMMUNOLOGY, 2021, 12
[34]   Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity [J].
Chan, Koon-Wing ;
Wong, Chung-Yin ;
Leung, Daniel ;
Yang, Xingtian ;
Fok, Susanna F. S. ;
Mak, Priscilla H. S. ;
Yao, Lei ;
Ma, Wen ;
Mao, Huawei ;
Zhao, Xiaodong ;
Liang, Weiling ;
Singh, Surjit ;
Barbouche, Mohamed-Ridha ;
He, Jian-Xin ;
Jiang, Li-Ping ;
Liew, Woei-Kang ;
Minh Huong Thi Le ;
Muktiarti, Dina ;
Santos-Ocampo, Fatima Johanna ;
Djidjik, Reda ;
Belaid, Brahim ;
Ismail, Intan Hakimah ;
Latiff, Amir Hamzah Abdul ;
Lee, Way Seah ;
Chen, Tong-Xin ;
Liu, Jinrong ;
Jin, Runming ;
Wang, Xiaochuan ;
Chien, Yin Hsiu ;
Yu, Hsin-Hui ;
Raj, Dinesh ;
Raj, Revathi ;
Vaughan, Jenifer ;
Urban, Michael ;
van den Berg, Sylvia ;
Eley, Brian ;
Lee, Anselm Chi-Wai ;
Isa, Mas Suhaila ;
Ang, Elizabeth Y. ;
Lee, Bee Wah ;
Yeoh, Allen Eng Juh ;
Shek, Lynette P. ;
Nguyen Ngoc Quynh Le ;
Van Anh Thi Nguyen ;
Anh Phan Nguyen Lien ;
Capulong, Regina D. ;
Michelle Mallillin, Joanne ;
Villanueva, Jose Carlo Miguel M. ;
Camonayan, Karol Anne B. ;
De Vera, Michelle .
FRONTIERS IN IMMUNOLOGY, 2022, 13
[35]   Application of rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseases [J].
Ouyang, Xuejun ;
Zhang, Yu ;
Yu, Tian ;
Zhang, Qian ;
Xu, Lei ;
Zhang, Victor Wei ;
Wang, Bin .
FRONTIERS IN GENETICS, 2025, 16
[36]   Prenatal diagnosis of Baraitser-Winter syndrome using exome sequencing: Clinical report and review of literature [J].
Maria, Papamichail ;
Emmanouil, Manolakos ;
Ioannis, Papoulidis ;
Elisavet, Siomou ;
Anna, Eleftheriades ;
Ioannis, Marinakis ;
Konstantinos, Tzanakis ;
Anastasios, Sartsidis ;
Nikolaos, Vlahos F. ;
Makarios, Eleftheriades .
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2021, 64 (11)
[37]   Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test [J].
Zampieri, Stefania ;
Cattarossi, Silvia ;
Pavan, Eleonora ;
Barbato, Antonio ;
Fiumara, Agata ;
Peruzzo, Paolo ;
Scarpa, Maurizio ;
Ciana, Giovanni ;
Dardis, Andrea .
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2021, 22 (11)
[38]   Clinical outcome of preimplantation genetic diagnosis and screening using next generation sequencing [J].
Tan, Yueqiu ;
Yin, Xuyang ;
Zhang, Shuoping ;
Jiang, Hui ;
Tan, Ke ;
Li, Jian ;
Xiong, Bo ;
Gong, Fei ;
Zhang, Chunlei ;
Pan, Xiaoyu ;
Chen, Fang ;
Chen, Shengpei ;
Gong, Chun ;
Lu, Changfu ;
Luo, Keli ;
Gu, Yifan ;
Zhang, Xiuqing ;
Wang, Wei ;
Xu, Xun ;
Vajta, Gabor ;
Bolund, Lars ;
Yang, Huanming ;
Lu, Guangxiu ;
Du, Yutao ;
Lin, Ge .
GIGASCIENCE, 2014, 3
[39]   Genetic Diagnosis of Pyruvate Kinase Deficiency in Undiagnosed Iranian Patients with Severe Hemolytic Anemia, using Whole Exome Sequencing [J].
Sisakht, Jafar Mehrabi ;
Mehri, Maghsood ;
Najmabadi, Hossein ;
Azarkeivan, Azita ;
Neishabury, Maryam .
ARCHIVES OF IRANIAN MEDICINE, 2022, 25 (10) :691-697
[40]   Diagnostic Exome Sequencing Identifies Two Novel IQSEC2 Mutations Associated with X-Linked Intellectual Disability with Seizures: Implications for Genetic Counseling and Clinical Diagnosis [J].
Gandomi, Stephanie K. ;
Gonzalez, K. D. Farwell ;
Parra, M. ;
Shahmirzadi, L. ;
Mancuso, J. ;
Pichurin, P. ;
Temme, R. ;
Dugan, S. ;
Zeng, W. ;
Tang, Sha .
JOURNAL OF GENETIC COUNSELING, 2014, 23 (03) :289-298