Chan, Koon-WingWong, Chung-YinLeung, DanielYang, XingtianFok, Susanna F.S.Mak, Priscilla H.S.Yao, LeiMa, WenMao, HuaweiZhao, XiaodongLiang, WeilingSingh, SurjitBarbouche, Mohamed-RidhaHe, Jian-XinJiang, Li-PingLiew, Woei-KangThi Le, Minh HuongMuktiarti, DinaSantos-Ocampo, Fatima JohannaDjidjik, RedaBelaid, BrahimIsmail, Intan HakimahLatiff, Amir Hamzah AbdulLee, Way SeahChen, Tong-XinLiu, JinrongJin, RunmingWang, XiaochuanChien, Yin HsiuYu, Hsin-HuiRaj, DineshRaj, RevathiVaughan, JeniferUrban, MichaelVan den Berg, SylviaEley, BrianLee, AnselmChi-WaiIsa, Mas SuhailaAng, Elizabeth Y.Lee, Bee WahJuh Yeoh, Allen EngShek, Lynette P.Quynh Le, Nguyen NgocThi Nguyen, Van AnhNguyen Lien, Anh PhanCapulong, Regina D.Mallillin, Joanne MichelleVillanu, Jose Carlo Miguel M.Camonayan, Karol Anne B.De Vera, MichelleCasis-Hao, Roxanne J.Lobo, Rommel Crisenio M.Foronda, RubyBinas, Vicky Wee EngBoushaki, SorayaKechout, NadiaPhongsamart, GunWongwaree, SiripornJiratchaya, ChamnanruaLao-Araya, MongkolTrakultivakorn, MuthitaSuratannon, NarissaraJirapongsananuruk, OrathaiChantveerawong, TeerapolKamchaisatian, WasuChan, Lee LeeKoh, Mia TuangWong, Ke JuinFong, Siew MoyThong, Meow-KeongLatiff, Zarina AbdulNoh, Lokman MohdDe Silva, RajivaJouhadi, ZinebAl-Saad, KhuloodVignesh, PandiarajanJindal, Ankur KumarRawat, AmitGupta, AnjuSuri, DeeptiYang, JingAu, Elaine Yuen-LingKwok, Janette Siu-YinChan, Siu-YuenHui, Wayland Yuk-FunChua, Gilbert T.Duque, Jaime RosaCheong, Kai-NingChong, Patrick Chun YinHo, Marco Hok KungLee, Tsz-LeungWong, Wilfred Hing-SangYang, WanlingLee, Pamela P.Tu, WenweiYang, Xi-QiangLau, Yu Lung2023-07-052023-07-052022-07-08Chan K-W, Wong C-Y, Leung D, Yang X, Fok SFS, Mak PHS, Yao L, Ma W, Mao H, Zhao X, Liang W, Singh S, Barbouche M-R, He J-X, Jiang L-P, Liew W-K, Le MHT, Muktiarti D, Santos-Ocampo FJ, Djidjik R, Belaid B, Ismail IH, Abdul Latiff AH, Lee WS, Chen T-X, Liu J, Jin R, Wang X, Chien YH, Yu H-H, Raj D, Raj R, Vaughan J, Urban M, Berg Svd, Eley B, Lee AC-W, Isa MS, Ang EY, Lee BW, Yeoh AEJ, Shek LP, Quynh Le NN, Nguyen VAT, Phan Nguyen Lien A, Capulong RD, Mallillin JM, Villanueva JCMM, Camonayan KAB, Vera MD, Casis-Hao RJ, Lobo RCM, Foronda R, Binas VWE, Boushaki S, Kechout N, Phongsamart G, Wongwaree S, Jiratchaya C, Lao-Araya M, Trakultivakorn M, Suratannon N, Jirapongsananuruk O, Chantveerawong T, Kamchaisatian W, Chan LL, Koh MT, Wong KJ, Fong SM, Thong M-K, Latiff ZA, Noh LM, Silva Rd, Jouhadi Z, Al-Saad K, Vignesh P, Jindal AK, Rawat A, Gupta A, Suri D, Yang J, Au EY-L, Kwok JS-Y, Chan S-Y, Hui WY-F, Chua GT, Duque JR, Cheong K-N, Chong PCY, Ho MHK, Lee T-L, Wong WH-S, Yang W, Lee PP, Tu W, Yang X-Q and Lau YL (2022) 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. Frontiers in Immunology 13:883446. DOI: 10.3389/fimmu.2022.883446.1664-3224 (online)10.3389/fimmu.2022.883446http://hdl.handle.net/2263/91265DATA AVAILABILITY STATEMENT : The original contributions presented in the study are included in the article/Supplementary Material. Further inquiries can be directed to the corresponding author.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.en© 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. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY).Primary immunodeficiency diseasesTargeted geneSDG-03: Good health and well-beingInborn errors of immunity (IEI)Whole exome sequencing (WES)Sanger sequencing (SS)Next generation sequencing (NGS)Article