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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Date
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
Journal Title
Journal ISSN
Volume Title
Publisher
Frontiers Media
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.
Description
DATA 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.
Keywords
Primary immunodeficiency diseases, Targeted gene, SDG-03: Good health and well-being, Inborn errors of immunity (IEI), Whole exome sequencing (WES), Sanger sequencing (SS), Next generation sequencing (NGS)
Sustainable Development Goals
Citation
Chan 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,
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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.