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

作者全名："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; 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; de Silva, Rajiva; 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"

作者地址："[Chan, Koon-Wing; Wong, Chung-Yin; Leung, Daniel; Yang, Xingtian; Fok, Susanna F. S.; Mak, Priscilla H. S.; Yao, Lei; Ma, Wen; Yang, Jing; Chan, Siu-Yuen; Hui, Wayland Yuk-Fun; Chua, Gilbert T.; Duque, Jaime Rosa; Wong, Wilfred Hing-Sang; Yang, Wanling; Lee, Pamela P.; Tu, Wenwei; Lau, Yu Lung] Univ Hong Kong, Li Ka Shing Fac Med, Sch Clin Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R China; [Mao, Huawei] Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Dept Immunol,Minist Educ,Key Lab Major Dis Childr, Beijing, Peoples R China; [Zhao, Xiaodong; Jiang, Li-Ping; Yang, Xi-Qiang] Chongqing Med Univ, Childrens Hosp, Chongqing, Peoples R China; [Liang, Weiling] Univ Hong Kong, Shenzhen Primary Immunodeficiency Diagnost & Ther, Shenzhen Hosp, Shenzhen, Peoples R China; [Singh, Surjit; Vignesh, Pandiarajan; Jindal, Ankur Kumar; Rawat, Amit; Gupta, Anju; Suri, Deepti] Postgrad Inst Med Educ & Res, Adv Pediat Ctr, Dept Pediat, Pediat Allergy & Immunol Unit, Chandigarh, India; [Barbouche, Mohamed-Ridha] Univ Tunis El Manar, Inst Pasteur Tunis, Tunis, Tunisia; [He, Jian-Xin; Liu, Jinrong] Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Dept Resp Med, Beijing, Peoples R China; [Liew, Woei-Kang] KK Womens & Childrens Hosp, Dept Paediat Med, Singapore, Singapore; [Minh Huong Thi Le] Natl Hosp Paediat, Dept Immunoallergol & Rheumatol, Hanoi, Vietnam; [Muktiarti, Dina] Univ Indonesia, Dept Child Hlth, Fac Med, Cipto Mangunkusumo Hosp, Jakarta, Indonesia; [Santos-Ocampo, Fatima Johanna] Makati Med Ctr, Dept Pediat, Sect Allergy & Immunol, Makati, Philippines; [Djidjik, Reda; Belaid, Brahim; Boushaki, Soraya] Univ Algiers 1, Dept Med Immunol, Beni Messous Univ Hosp Ctr, Algiers, Algeria; [Ismail, Intan Hakimah] Univ Putra Malaysia, Fac Med & Hlth Sci, Dept Paediat, Clin Immunol Unit, Serdang, Selangor, Malaysia; [Latiff, Amir Hamzah Abdul] Pantai Hosp Kuala Lumpur, Allergy & Immunol Ctr, Kuala Lumpur, Malaysia; [Lee, Way Seah; Koh, Mia Tuang] Univ Malaya, Fac Med, Dept Paediat, Kuala Lumpur, Malaysia; [Chen, Tong-Xin] Shanghai Jiao Tong Univ, Shanghai Childrens Med Ctr, Sch Med, Shanghai, Peoples R China; [Jin, Runming] Huazhong Univ Sci & Technol, Union Hosp, Tongji Med Coll, Dept Pediat, Wuhan, Peoples R China; [Wang, Xiaochuan] Fudan Univ, Dept Clin Immunol, Childrens Hosp, Shanghai, Peoples R China; [Chien, Yin Hsiu] Natl Taiwan Univ Hosp, Dept Med Genet & Pediat, Taipei, Taiwan; [Yu, Hsin-Hui] Natl Taiwan Univ, Dept Pediat, Div Allergy Immunol & Rheumatol, Childrens Hosp, Taipei, Taiwan; [Raj, Dinesh] Univ Delhi, Holy Family Hosp, Dept Paediat, New Delhi, India; [Raj, Revathi] Apollo Hosp, Dept Paediat Haematol Oncol Blood & Marrow Transp, Chennai, Tamil Nadu, India; [Vaughan, Jenifer] Univ Witwatersrand, Dept Mol Med & Haematol, Natl Hlth Lab Serv, Johannesburg, South Africa; [Urban, Michael] Univ Stellenbosch Western Cape, Div Mol Biol & Human Genet, Pretoria, South Africa; [van den Berg, Sylvia] Ampath, Dept Immunol, Pretoria, South Africa; [van den Berg, Sylvia] Univ Pretoria, Dept Paediat & Child Hlth, Pretoria, South Africa; [van den Berg, Sylvia] Steve Biko Acad Hosp, Pretoria, South Africa; [Eley, Brian] Univ Cape Town, Dept Paediat & Child Hlth, Cape Town, South Africa; [Eley, Brian] Red Cross War Mem Childrens Hosp, Cape Town, South Africa; [Lee, Anselm Chi-Wai] Mt Elizabeth Hosp, Childrens Haematol & Canc Ctr, Singapore, Singapore; [Isa, Mas Suhaila; Ang, Elizabeth Y.; Lee, Bee Wah; Yeoh, Allen Eng Juh] Natl Univ Hlth Syst, Khoo Teck Puat Natl Univ Childrens Med Inst, Singapore, Singapore; [Lee, Bee Wah; Yeoh, Allen Eng Juh; Shek, Lynette P.] Natl Univ Singapore, Yong Loo Lin Sch Med, Dept Paediat, Singapore, Singapore; [Shek, Lynette P.] ASTAR, Singapore Inst Clin Sci, Singapore, Singapore; [Nguyen Ngoc Quynh Le] Natl Hosp Pediat, Hanoi, Vietnam; [Van Anh Thi Nguyen] Vietnam Natl Childrens Hosp, Dept Rheumatol Allergy & Immunol, Hanoi, Vietnam; [Anh Phan Nguyen Lien] Childrens Hosp 1, Ho Chi Minh City, Vietnam; [Capulong, Regina D.] ManilaMed, Dept Pediat, Manila, Philippines; [Michelle Mallillin, Joanne] Gen Emilio Aguinaldo Mem Hosp, Asthma & Immunol, Child & Adult Allergy, Cavite, Philippines; [Villanueva, Jose Carlo Miguel M.] Univ Santo Tomas Hosp, Dept Pediat, Sect Allergy & Clin Immunol, Manila, Philippines; [Camonayan, Karol Anne B.] Univ Philippines, Philippine Gen Hosp, Manila, Philippines; [De Vera, Michelle] Med City, Sect Allergy & Immunol, Pasig, Philippines; [Casis-Hao, Roxanne J.] Philippine Gen Hosp, Dept Pediat, Div Allergy & Clin Immunol, Manila, Philippines; [Lobo, Rommel Crisenio M.] Fe del Mundo Med Ctr, Sect Allergy Asthma & Immunol, Quezon City, Philippines; [Foronda, Ruby] Univ East Ramon Magsaysay Mem Med Ctr, Dept Pediat, Quezon City, Philippines; [Binas, Vicky Wee Eng] De La Salle Hlth Sci Inst, Dasmarinas, Philippines; [Boushaki, Soraya] Univ Sci & Technol HouariBoumediene, Fac Biol Sci, Unit Genet, Lab Mol & Cellular Biol, Algiers, Algeria; [Kechout, Nadia] Pasteur Inst Algeria, Dept Immunol, Fac Med, Algiers, Algeria; [Phongsamart, Gun; Wongwaree, Siriporn; Jiratchaya, Chamnanrua] Queen Sirikit Natl Inst Child Hlth, Dept Pediat, Bangkok, Thailand; [Lao-Araya, Mongkol; Trakultivakorn, Muthita] Chiang Mai Univ, Fac Med, Dept Pediat, Chiang Mai, Thailand; [Suratannon, Narissara] Chulalongkorn Univ, King Chulalongkorn Mem Hosp, Fac Med,Thai Red Cross Soc, Ctr Excellence Allergy & Clin Immunol,Div Allergy, Bangkok, Thailand; [Jirapongsananuruk, Orathai] Mahidol Univ, Fac Med, Dept Pediat, Div Allergy & Clin Immunol,Siriraj Hosp, Bangkok, Thailand; [Chantveerawong, Teerapol] Phramongkutklao Hosp, Dept Med, Div Allergy & Clin Immunol, Bangkok, Thailand; [Kamchaisatian, Wasu] Mahidol Univ, Fac Med, Dept Pediat, Div Pediat Allergy & Immunol,Ramathibodi Hosp, Bangkok, Thailand; [Chan, Lee Lee] Subang Jaya Med Ctr, Subang Jaya, Malaysia; [Wong, Ke Juin; Fong, Siew Moy] Minist Hlth, Dept Paediat, Likas Hosp, Kota Kinabalu, Sabah, Malaysia; [Thong, Meow-Keong] Univ Malaya, Fac Med, Dept Paediat, Genet & Metab Unit, Kuala Lumpur, Malaysia; [Latiff, Zarina Abdul; Noh, Lokman Mohd] Univ Kebangsaan Malaysia, Dept Pediat, Kuala Lumpur, Malaysia; [Noh, Lokman Mohd] Minist Hlth Malaysia, Dept Paediat, Hosp Tunku Azizah, Kuala Lumpur, Malaysia; [de Silva, Rajiva] Med Res Inst, Dept Immunol, Colombo, Sri Lanka; [Jouhadi, Zineb] Univ Hassan 2, Dept Pediat Infect Dis, Childrens Hosp CHU Ibn Rochd, Casablanca, Morocco; [Al-Saad, Khulood] Salmaniya Med Complex, Dept Pediat, Manama, Bahrain; [Au, Elaine Yuen-Ling] Queen Mary Hosp, Dept Pathol, Div Clin Immunol, Hong Kong, Peoples R China; [Kwok, Janette Siu-Yin] Queen Mary Hosp, Dept Pathol, Div Transplantat & Immunogenet, Hong Kong, Peoples R China; [Cheong, Kai-Ning; Lee, Tsz-Leung] Hong Kong Childrens Hosp, Hong Kong, Peoples R China; [Chong, Patrick Chun Yin; Ho, Marco Hok Kung] Virtus Med, Hong Kong, Peoples R China"

通信作者："Lau, YL (通讯作者)，Univ Hong Kong, Li Ka Shing Fac Med, Sch Clin Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R China."

来源：FRONTIERS IN IMMUNOLOGY

ESI学科分类：IMMUNOLOGY

WOS号：WOS:000835682200001

JCR分区：Q1

影响因子：7.3

年份：2022

卷号：13

期号：　

开始页：　

结束页：　

文献类型：Article

关键词：inborn errors of immunity; primary immunodeficiency diseases; targeted gene; Sanger sequencing; whole exome sequencing; next generation sequencing

摘要："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."

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