Please use this identifier to cite or link to this item: http://cmuir.cmu.ac.th/jspui/handle/6653943832/75197
Title: 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
Authors: Koon Wing Chan
Chung Yin Wong
Daniel Leung
Xingtian Yang
Susanna F.S. Fok
Priscilla H.S. Mak
Lei Yao
Wen Ma
Huawei Mao
Xiaodong Zhao
Weiling Liang
Surjit Singh
Mohamed Ridha Barbouche
Jian Xin He
Li Ping Jiang
Woei Kang Liew
Minh Huong Thi Le
Dina Muktiarti
Fatima Johanna Santos-Ocampo
Reda Djidjik
Brahim Belaid
Intan Hakimah Ismail
Amir Hamzah Abdul Latiff
Way Seah Lee
Tong Xin Chen
Jinrong Liu
Runming Jin
Xiaochuan Wang
Yin Hsiu Chien
Hsin Hui Yu
Dinesh Raj
Revathi Raj
Jenifer Vaughan
Michael Urban
Sylvia van den Berg
Brian Eley
Anselm Chi Wai Lee
Mas Suhaila Isa
Elizabeth Y. Ang
Bee Wah Lee
Allen Eng Juh Yeoh
Lynette P. Shek
Nguyen Ngoc Quynh Le
Van Anh Thi Nguyen
Anh Phan Nguyen Lien
Regina D. Capulong
Joanne Michelle Mallillin
Jose Carlo Miguel M. Villanueva
Karol Anne B. Camonayan
Michelle De Vera
Roxanne J. Casis-Hao
Rommel Crisenio M. Lobo
Ruby Foronda
Vicky Wee Eng Binas
Soraya Boushaki
Nadia Kechout
Gun Phongsamart
Siriporn Wongwaree
Chamnanrua Jiratchaya
Mongkol Lao-Araya
Muthita Trakultivakorn
Narissara Suratannon
Orathai Jirapongsananuruk
Teerapol Chantveerawong
Wasu Kamchaisatian
Lee Lee Chan
Mia Tuang Koh
Ke Juin Wong
Siew Moy Fong
Meow Keong Thong
Zarina Abdul Latiff
Lokman Mohd Noh
Rajiva de Silva
Zineb Jouhadi
Khulood Al-Saad
Pandiarajan Vignesh
Ankur Kumar Jindal
Amit Rawat
Anju Gupta
Deepti Suri
Jing Yang
Elaine Yuen Ling Au
Janette Siu Yin Kwok
Siu Yuen Chan
Wayland Yuk Fun Hui
Gilbert T. Chua
Jaime Rosa Duque
Kai Ning Cheong
Patrick Chun Yin Chong
Marco Hok Kung Ho
Tsz Leung Lee
Wilfred Hing Sang Wong
Wanling Yang
Pamela P. Lee
Wenwei Tu
Xi Qiang Yang
Yu Lung Lau
Authors: Koon Wing Chan
Chung Yin Wong
Daniel Leung
Xingtian Yang
Susanna F.S. Fok
Priscilla H.S. Mak
Lei Yao
Wen Ma
Huawei Mao
Xiaodong Zhao
Weiling Liang
Surjit Singh
Mohamed Ridha Barbouche
Jian Xin He
Li Ping Jiang
Woei Kang Liew
Minh Huong Thi Le
Dina Muktiarti
Fatima Johanna Santos-Ocampo
Reda Djidjik
Brahim Belaid
Intan Hakimah Ismail
Amir Hamzah Abdul Latiff
Way Seah Lee
Tong Xin Chen
Jinrong Liu
Runming Jin
Xiaochuan Wang
Yin Hsiu Chien
Hsin Hui Yu
Dinesh Raj
Revathi Raj
Jenifer Vaughan
Michael Urban
Sylvia van den Berg
Brian Eley
Anselm Chi Wai Lee
Mas Suhaila Isa
Elizabeth Y. Ang
Bee Wah Lee
Allen Eng Juh Yeoh
Lynette P. Shek
Nguyen Ngoc Quynh Le
Van Anh Thi Nguyen
Anh Phan Nguyen Lien
Regina D. Capulong
Joanne Michelle Mallillin
Jose Carlo Miguel M. Villanueva
Karol Anne B. Camonayan
Michelle De Vera
Roxanne J. Casis-Hao
Rommel Crisenio M. Lobo
Ruby Foronda
Vicky Wee Eng Binas
Soraya Boushaki
Nadia Kechout
Gun Phongsamart
Siriporn Wongwaree
Chamnanrua Jiratchaya
Mongkol Lao-Araya
Muthita Trakultivakorn
Narissara Suratannon
Orathai Jirapongsananuruk
Teerapol Chantveerawong
Wasu Kamchaisatian
Lee Lee Chan
Mia Tuang Koh
Ke Juin Wong
Siew Moy Fong
Meow Keong Thong
Zarina Abdul Latiff
Lokman Mohd Noh
Rajiva de Silva
Zineb Jouhadi
Khulood Al-Saad
Pandiarajan Vignesh
Ankur Kumar Jindal
Amit Rawat
Anju Gupta
Deepti Suri
Jing Yang
Elaine Yuen Ling Au
Janette Siu Yin Kwok
Siu Yuen Chan
Wayland Yuk Fun Hui
Gilbert T. Chua
Jaime Rosa Duque
Kai Ning Cheong
Patrick Chun Yin Chong
Marco Hok Kung Ho
Tsz Leung Lee
Wilfred Hing Sang Wong
Wanling Yang
Pamela P. Lee
Wenwei Tu
Xi Qiang Yang
Yu Lung Lau
Keywords: Immunology and Microbiology;Medicine
Issue Date: 8-Jul-2022
Abstract: 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.
URI: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85134671270&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/75197
ISSN: 16643224
Appears in Collections:CMUL: Journal Articles

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