TY - JOUR
T1 - 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
AU - Chan, Koon Wing
AU - Wong, Chung Yin
AU - Leung, Daniel
AU - Yang, Xingtian
AU - Fok, Susanna F.S.
AU - Mak, Priscilla H.S.
AU - Yao, Lei
AU - Ma, Wen
AU - Mao, Huawei
AU - Zhao, Xiaodong
AU - Liang, Weiling
AU - Singh, Surjit
AU - Barbouche, Mohamed Ridha
AU - He, Jian Xin
AU - Jiang, Li Ping
AU - Liew, Woei Kang
AU - Le, Minh Huong Thi
AU - Muktiarti, Dina
AU - Santos-Ocampo, Fatima Johanna
AU - Djidjik, Reda
AU - Belaid, Brahim
AU - Ismail, Intan Hakimah
AU - Abdul Latiff, Amir Hamzah
AU - Lee, Way Seah
AU - Chen, Tong Xin
AU - Liu, Jinrong
AU - Jin, Runming
AU - Wang, Xiaochuan
AU - Chien, Yin Hsiu
AU - Yu, Hsin Hui
AU - Raj, Dinesh
AU - Raj, Revathi
AU - Vaughan, Jenifer
AU - Urban, Michael
AU - Berg, Sylvia van den
AU - Eley, Brian
AU - Lee, Anselm Chi Wai
AU - Isa, Mas Suhaila
AU - Ang, Elizabeth Y.
AU - Lee, Bee Wah
AU - Yeoh, Allen Eng Juh
AU - Shek, Lynette P.
AU - Quynh Le, Nguyen Ngoc
AU - Nguyen, Van Anh Thi
AU - Phan Nguyen Lien, Anh
AU - Capulong, Regina D.
AU - Mallillin, Joanne Michelle
AU - Villanueva, Jose Carlo Miguel M.
AU - Camonayan, Karol Anne B.
AU - Vera, Michelle De
AU - Casis-Hao, Roxanne J.
AU - Lobo, Rommel Crisenio M.
AU - Foronda, Ruby
AU - Binas, Vicky Wee Eng
AU - Boushaki, Soraya
AU - Kechout, Nadia
AU - Phongsamart, Gun
AU - Wongwaree, Siriporn
AU - Jiratchaya, Chamnanrua
AU - Lao-Araya, Mongkol
AU - Trakultivakorn, Muthita
AU - Suratannon, Narissara
AU - Jirapongsananuruk, Orathai
AU - Chantveerawong, Teerapol
AU - Kamchaisatian, Wasu
AU - Chan, Lee Lee
AU - Koh, Mia Tuang
AU - Wong, Ke Juin
AU - Fong, Siew Moy
AU - Thong, Meow Keong
AU - Latiff, Zarina Abdul
AU - Noh, Lokman Mohd
AU - Silva, Rajiva de
AU - Jouhadi, Zineb
AU - Al-Saad, Khulood
AU - Vignesh, Pandiarajan
AU - Jindal, Ankur Kumar
AU - Rawat, Amit
AU - Gupta, Anju
AU - Suri, Deepti
AU - Yang, Jing
AU - Au, Elaine Yuen Ling
AU - Kwok, Janette Siu Yin
AU - Chan, Siu Yuen
AU - Hui, Wayland Yuk Fun
AU - Chua, Gilbert T.
AU - Duque, Jaime Rosa
AU - Cheong, Kai Ning
AU - Chong, Patrick Chun Yin
AU - Ho, Marco Hok Kung
AU - Lee, Tsz Leung
AU - Wong, Wilfred Hing Sang
AU - Yang, Wanling
AU - Lee, Pamela P.
AU - Tu, Wenwei
AU - Yang, Xi Qiang
AU - Lau, Yu Lung
N1 - Funding Information:
This work was supported by the Hong Kong Society for Relief of Disabled Children and Jeffrey Modell Foundation.
Publisher Copyright:
Copyright © 2022 Chan, Wong, Leung, Yang, Fok, Mak, Yao, Ma, Mao, Zhao, Liang, Singh, Barbouche, He, Jiang, Liew, Le, Muktiarti, Santos-Ocampo, Djidjik, Belaid, Ismail, Abdul Latiff, Lee, Chen, Liu, Jin, Wang, Chien, Yu, Raj, Raj, Vaughan, Urban, Berg, Eley, Lee, Isa, Ang, Lee, Yeoh, Shek, Quynh Le, Nguyen, Phan Nguyen Lien, Capulong, Mallillin, Villanueva, Camonayan, Vera, Casis-Hao, Lobo, Foronda, Binas, Boushaki, Kechout, Phongsamart, Wongwaree, Jiratchaya, Lao-Araya, Trakultivakorn, Suratannon, Jirapongsananuruk, Chantveerawong, Kamchaisatian, Chan, Koh, Wong, Fong, Thong, Latiff, Noh, Silva, Jouhadi, Al-Saad, Vignesh, Jindal, Rawat, Gupta, Suri, Yang, Au, Kwok, Chan, Hui, Chua, Duque, Cheong, Chong, Ho, Lee, Wong, Yang, Lee, Tu, Yang and Lau.
PY - 2022/7/8
Y1 - 2022/7/8
N2 - To address inborn errors of immunity (IEI) which were underdiagnosed in resource-limited regions, our centre developed and offered free genetic testing for the most common IEI by Sanger sequencing (SS) since 2001. With the establishment of The Asian Primary Immunodeficiency (APID) Network in 2009, the awareness and definitive diagnosis of IEI were further improved with collaboration among centres caring for IEI patients from East and Southeast Asia. We also started to use whole exome sequencing (WES) for undiagnosed cases and further extended our collaboration with centres from South Asia and Africa. With the increased use of Next Generation Sequencing (NGS), we have shifted our diagnostic practice from SS to WES. However, SS was still one of the key diagnostic tools for IEI for the past two decades. Our centre has performed 2,024 IEI SS genetic tests, with in-house protocol designed specifically for 84 genes, in 1,376 patients with 744 identified to have disease-causing mutations (54.1%). The high diagnostic rate after just one round of targeted gene SS for each of the 5 common IEI (X-linked agammaglobulinemia (XLA) 77.4%, Wiskott–Aldrich syndrome (WAS) 69.2%, X-linked chronic granulomatous disease (XCGD) 59.5%, X-linked severe combined immunodeficiency (XSCID) 51.1%, and X-linked hyper-IgM syndrome (HIGM1) 58.1%) demonstrated targeted gene SS should remain the first-tier genetic test for the 5 common X-linked IEI.
AB - To address inborn errors of immunity (IEI) which were underdiagnosed in resource-limited regions, our centre developed and offered free genetic testing for the most common IEI by Sanger sequencing (SS) since 2001. With the establishment of The Asian Primary Immunodeficiency (APID) Network in 2009, the awareness and definitive diagnosis of IEI were further improved with collaboration among centres caring for IEI patients from East and Southeast Asia. We also started to use whole exome sequencing (WES) for undiagnosed cases and further extended our collaboration with centres from South Asia and Africa. With the increased use of Next Generation Sequencing (NGS), we have shifted our diagnostic practice from SS to WES. However, SS was still one of the key diagnostic tools for IEI for the past two decades. Our centre has performed 2,024 IEI SS genetic tests, with in-house protocol designed specifically for 84 genes, in 1,376 patients with 744 identified to have disease-causing mutations (54.1%). The high diagnostic rate after just one round of targeted gene SS for each of the 5 common IEI (X-linked agammaglobulinemia (XLA) 77.4%, Wiskott–Aldrich syndrome (WAS) 69.2%, X-linked chronic granulomatous disease (XCGD) 59.5%, X-linked severe combined immunodeficiency (XSCID) 51.1%, and X-linked hyper-IgM syndrome (HIGM1) 58.1%) demonstrated targeted gene SS should remain the first-tier genetic test for the 5 common X-linked IEI.
KW - inborn errors of immunity
KW - next generation sequencing
KW - primary immunodeficiency diseases
KW - Sanger sequencing
KW - targeted gene
KW - whole exome sequencing
UR - http://www.scopus.com/inward/record.url?scp=85134671270&partnerID=8YFLogxK
U2 - 10.3389/fimmu.2022.883446
DO - 10.3389/fimmu.2022.883446
M3 - Article
C2 - 35874699
AN - SCOPUS:85134671270
SN - 1664-3224
VL - 13
JO - Frontiers in Immunology
JF - Frontiers in Immunology
M1 - 883446
ER -