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

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, t...

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Published inFrontiers in immunology Vol. 13; p. 883446
Main Authors 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, Le, Minh Huong Thi, Muktiarti, Dina, Santos-Ocampo, Fatima Johanna, Djidjik, Reda, Belaid, Brahim, Ismail, Intan Hakimah, Abdul Latiff, Amir Hamzah, 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, Berg, Sylvia van den, Eley, Brian, Lee, Anselm Chi-Wai, Isa, Mas Suhaila, Ang, Elizabeth Y., Lee, Bee Wah, Yeoh, Allen Eng Juh, Shek, Lynette P., Quynh Le, Nguyen Ngoc, Nguyen, Van Anh Thi, Phan Nguyen Lien, Anh, Capulong, Regina D., Mallillin, Joanne Michelle, Villanueva, Jose Carlo Miguel M., Camonayan, Karol Anne B., Vera, Michelle De, Casis-Hao, Roxanne J., Lobo, Rommel Crisenio M., Foronda, Ruby, Binas, Vicky Wee Eng, Boushaki, Soraya, Kechout, Nadia, Phongsamart, Gun, Wongwaree, Siriporn, Jiratchaya, Chamnanrua, Lao-Araya, Mongkol, Trakultivakorn, Muthita, Suratannon, Narissara, Jirapongsananuruk, Orathai, Chantveerawong, Teerapol, Kamchaisatian, Wasu, Chan, Lee Lee, Koh, Mia Tuang, Wong, Ke Juin, Fong, Siew Moy, Thong, Meow-Keong, Latiff, Zarina Abdul, Noh, Lokman Mohd, Silva, Rajiva de, Jouhadi, Zineb, Al-Saad, Khulood, Vignesh, Pandiarajan, Jindal, Ankur Kumar, Rawat, Amit, Gupta, Anju, Suri, Deepti, Yang, Jing, Au, Elaine Yuen-Ling, Kwok, Janette Siu-Yin, Chan, Siu-Yuen, Hui, Wayland Yuk-Fun, Chua, Gilbert T., Duque, Jaime Rosa, Cheong, Kai-Ning, Chong, Patrick Chun Yin, Ho, Marco Hok Kung, Lee, Tsz-Leung, Wong, Wilfred Hing-Sang, Yang, Wanling, Lee, Pamela P., Tu, Wenwei, Yang, Xi-Qiang, Lau, Yu Lung
Format Journal Article
LanguageEnglish
Published Frontiers Media S.A 08.07.2022
Subjects
Immunology
inborn errors of immunity
next generation sequencing
primary immunodeficiency diseases
Sanger sequencing
targeted gene
whole exome sequencing
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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.
AbstractList 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.
Author Trakultivakorn, Muthita
Lao-Araya, Mongkol
Suri, Deepti
Raj, Dinesh
Urban, Michael
Lee, Pamela P.
Koh, Mia Tuang
Thong, Meow-Keong
Jiang, Li-Ping
Vaughan, Jenifer
Kwok, Janette Siu-Yin
Ismail, Intan Hakimah
Tu, Wenwei
Vignesh, Pandiarajan
Ang, Elizabeth Y.
Cheong, Kai-Ning
Camonayan, Karol Anne B.
Ho, Marco Hok Kung
Boushaki, Soraya
Yang, Jing
Duque, Jaime Rosa
Leung, Daniel
Belaid, Brahim
Suratannon, Narissara
Phan Nguyen Lien, Anh
Yu, Hsin-Hui
Noh, Lokman Mohd
Singh, Surjit
Raj, Revathi
Wang, Xiaochuan
Fok, Susanna F. S.
Foronda, Ruby
Abdul Latiff, Amir Hamzah
Isa, Mas Suhaila
Ma, Wen
Chan, Siu-Yuen
Lee, Tsz-Leung
Quynh Le, Nguyen Ngoc
Chen, Tong-Xin
Jirapongsananuruk, Orathai
Chantveerawong, Teerapol
Wong, Chung-Yin
Lau, Yu Lung
Rawat, Amit
Mallillin, Joanne Michelle
Binas, Vicky Wee Eng
Liang, Weiling
Lee, Anselm Chi-Wai
Kechout, Nadia
Chan, Lee Lee
Chan, Koon-Wing
Yang, Xi-Qiang
Jin, Runming
Jouhadi, Zineb
Al-Saad, Khulood
Yao, Lei
Latiff, Zarina Abdul
Chien, Yin Hsiu
Villanueva, Jose Carlo Miguel M.
Nguyen, Van Anh Thi
Casis-Hao, Roxanne
AuthorAffiliation 7 Department of Respiratory Medicine, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health , Beijing , China
47 Center of Excellence for Allergy and Clinical Immunology, Division of Allergy, Immunology and Rheumatology, Department of Pediatrics, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Faculty of Medicine, Chulalongkorn University , Bangkok , Thailand
19 Department of Medical Genetics and Pediatrics, National Taiwan University Hospital , Taipei , Taiwan
20 Division of Allergy, Immunology and Rheumatology, Department of Pediatrics, National Taiwan University Children’s Hospital , Taipei , Taiwan
34 Department of Pediatrics, ManilaMed , Manila , Philippines
49 Division of Allergy and Clinical Immunology, Department of Medicine, Phramongkutklao Hospital , Bangkok , Thailand
18 Department of Clinical Immunology, Children’s Hospital of Fudan University , Shanghai , China
26 Department of Paediatrics and Child Health, University of
AuthorAffiliation_xml – name: 45 Department of Pediatrics, Queen Sirikit National Institute of Child Health , Bangkok , Thailand
– name: 51 Subang Jaya Medical Centre , Subang Jaya , Malaysia
– name: 32 Department of Rheumatology, Allergy, and Immunology, Vietnam National Children's Hospital , Hanoi , Vietnam
– name: 37 Philippine General Hospital, University of the Philippines , Manila , Philippines
– name: 9 Department of Immuno-Allergology and Rheumatology, National Hospital of Paediatrics , Hanoi , Vietnam
– name: 13 Clinical Immunology Unit, Department of Paediatrics, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia , Selangor , Malaysia
– name: 62 Virtus Medical , Hong Kong, Hong Kong SAR , China
– name: 14 Allergy and Immunology Centre, Pantai Hospital Kuala Lumpur , Kuala Lumpur , Malaysia
– name: 50 Division of Pediatrics Allergy and Immunology, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University , Bangkok , Thailand
– name: 44 Department of Immunology, Pasteur Institute of Algeria/Faculty of Medicine , Algiers , Algeria
– name: 7 Department of Respiratory Medicine, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health , Beijing , China
– name: 56 Department of Immunology, Medical Research Institute , Colombo , Sri Lanka
– name: 1 Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong , Hong Kong, Hong Kong SAR , China
– name: 39 Division of Allergy and Clinical Immunology, Department of Pediatrics, Philippine General Hospital , Manila , Philippines
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– name: 49 Division of Allergy and Clinical Immunology, Department of Medicine, Phramongkutklao Hospital , Bangkok , Thailand
– name: 21 Department of Paediatrics, Holy Family Hospital, University of Delhi , New Delhi , India
– name: 22 Department of Paediatric Haematology, Oncology, Blood and Marrow Transplantation, Apollo Hospitals , Chennai , India
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– name: 52 Department of Paediatrics, Likas Hospital , Ministry of Health, Sabah , Malaysia
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– name: 6 Institut Pasteur de Tunis, Université Tunis El Manar , Tunis , Tunisia
– name: 25 Department of Immunology, Ampath and Department of Paediatrics and Child Health, University of Pretoria and Steve Biko Academic Hospital , Pretoria , South Africa
– name: 15 Department of Paediatrics, Faculty of Medicine, University Malaya , Kuala Lumpur , Malaysia
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– name: 38 Section of Allergy and Immunology, The Medical City , Pasig , Philippines
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– name: 11 Section of Allergy and Immunology, Department of Pediatrics, Makati Medical Center , Makati City , Philippines
– name: 20 Division of Allergy, Immunology and Rheumatology, Department of Pediatrics, National Taiwan University Children’s Hospital , Taipei , Taiwan
– name: 12 Department of Medical Immunology, Beni Messous University Hospital Centre, University of Algiers 1 , Algiers , Algeria
– name: 29 Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore , Singapore , Singapore
– name: 35 Child and Adult Allergy, Asthma and Immunology General Emilio Aguinaldo Memorial Hospital , Cavite , Philippines
– name: 33 Children’s Hospital 1 , Ho Chi Minh City , Vietnam
– name: 41 Department of Pediatrics, University of the East Ramon Magsaysay Memorial Medical Center , Quezon City , Philippines
– name: 23 Department of Molecular Medicine and Haematology, National Health Laboratory Services, University of the Witwatersrand , Johannesburg , South Africa
– name: 36 Section of Allergy and Clinical Immunology, Department of Pediatrics, University of Santo Tomas Hospital , Manila , Philippines
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– name: 58 Department of Pediatrics, Salmaniya Medical Complex , Manama , Bahrain
– name: 43 Unit of Genetics, Laboratory of Molecular and Cellular Biology, Faculty of Biological Sciences, University of Sciences and Technology “HouariBoumediene” , Algiers , Algeria
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– name: 60 Division of Transplantation and Immunogenetics, Department of Pathology, Queen Mary Hospital , Hong Kong, Hong Kong SAR , China
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– name: 59 Division of Clinical Immunology, Department of Pathology, Queen Mary Hospital , Hong Kong, Hong Kong SAR , China
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CitedBy_id crossref_primary_10_1016_j_jped_2024_02_002
crossref_primary_10_3390_biomedicines11030959
crossref_primary_10_3389_fimmu_2023_1172848
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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 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
Copyright_xml – notice: 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 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
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Reviewed by: Svetlana O. Sharapova, Belarusian Research Center For Pediatric Oncology and Hematology, Belarus; Matteo Doglio, San Raffaele Hospital (IRCCS), Italy
This article was submitted to Primary Immunodeficiencies, a section of the journal Frontiers in Immunology
Edited by: Antonio Condino-Neto, University of São Paulo, Brazil
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Snippet To address inborn errors of immunity (IEI) which were underdiagnosed in resource-limited regions, our centre developed and offered free genetic testing for the...
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SubjectTerms Immunology
inborn errors of immunity
next generation sequencing
primary immunodeficiency diseases
Sanger sequencing
targeted gene
whole exome sequencing
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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
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https://pubmed.ncbi.nlm.nih.gov/PMC9304939
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