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
Issued Date
2022-07-08
Resource Type
eISSN
16643224
Scopus ID
2-s2.0-85134671270
Pubmed ID
35874699
Journal Title
Frontiers in Immunology
Volume
13
Rights Holder(s)
SCOPUS
Bibliographic Citation
Frontiers in Immunology Vol.13 (2022)
Suggested Citation
Chan K.W., Wong C.Y., Leung D., Yang X., Fok S.F.S., Mak P.H.S., 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 M.H.T., Muktiarti D., Santos-Ocampo F.J., Djidjik R., Belaid B., Ismail I.H., Abdul Latiff A.H., Lee W.S., Chen T.X., Liu J., Jin R., Wang X., Chien Y.H., Yu H.H., Raj D., Raj R., Vaughan J., Urban M., Berg S.v.d., Eley B., Lee A.C.W., Isa M.S., Ang E.Y., Lee B.W., Yeoh A.E.J., Shek L.P., Quynh Le N.N., Nguyen V.A.T., Phan Nguyen Lien A., Capulong R.D., Mallillin J.M., Villanueva J.C.M.M., Camonayan K.A.B., Vera M.D., Casis-Hao R.J., Lobo R.C.M., Foronda R., Binas V.W.E., Boushaki S., Kechout N., Phongsamart G., Wongwaree S., Jiratchaya C., Lao-Araya M., Trakultivakorn M., Suratannon N., Jirapongsananuruk O., Chantveerawong T., Kamchaisatian W., Chan L.L., Koh M.T., Wong K.J., Fong S.M., Thong M.K., Latiff Z.A., Noh L.M., Silva R.d., Jouhadi Z., Al-Saad K., Vignesh P., Jindal A.K., Rawat A., Gupta A., Suri D., Yang J., Au E.Y.L., Kwok J.S.Y., Chan S.Y., Hui W.Y.F., Chua G.T., Duque J.R., Cheong K.N., Chong P.C.Y., Ho M.H.K., Lee T.L., Wong W.H.S., Yang W., Lee P.P., Tu W., Yang X.Q., Lau Y.L. 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 Vol.13 (2022). doi:10.3389/fimmu.2022.883446 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/84955
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
Author(s)
Chan K.W.
Wong C.Y.
Leung D.
Yang X.
Fok S.F.S.
Mak P.H.S.
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 M.H.T.
Muktiarti D.
Santos-Ocampo F.J.
Djidjik R.
Belaid B.
Ismail I.H.
Abdul Latiff A.H.
Lee W.S.
Chen T.X.
Liu J.
Jin R.
Wang X.
Chien Y.H.
Yu H.H.
Raj D.
Raj R.
Vaughan J.
Urban M.
Berg S.v.d.
Eley B.
Lee A.C.W.
Isa M.S.
Ang E.Y.
Lee B.W.
Yeoh A.E.J.
Shek L.P.
Quynh Le N.N.
Nguyen V.A.T.
Phan Nguyen Lien A.
Capulong R.D.
Mallillin J.M.
Villanueva J.C.M.M.
Camonayan K.A.B.
Vera M.D.
Casis-Hao R.J.
Lobo R.C.M.
Foronda R.
Binas V.W.E.
Boushaki S.
Kechout N.
Phongsamart G.
Wongwaree S.
Jiratchaya C.
Lao-Araya M.
Trakultivakorn M.
Suratannon N.
Jirapongsananuruk O.
Chantveerawong T.
Kamchaisatian W.
Chan L.L.
Koh M.T.
Wong K.J.
Fong S.M.
Thong M.K.
Latiff Z.A.
Noh L.M.
Silva R.d.
Jouhadi Z.
Al-Saad K.
Vignesh P.
Jindal A.K.
Rawat A.
Gupta A.
Suri D.
Yang J.
Au E.Y.L.
Kwok J.S.Y.
Chan S.Y.
Hui W.Y.F.
Chua G.T.
Duque J.R.
Cheong K.N.
Chong P.C.Y.
Ho M.H.K.
Lee T.L.
Wong W.H.S.
Yang W.
Lee P.P.
Tu W.
Yang X.Q.
Lau Y.L.
Wong C.Y.
Leung D.
Yang X.
Fok S.F.S.
Mak P.H.S.
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 M.H.T.
Muktiarti D.
Santos-Ocampo F.J.
Djidjik R.
Belaid B.
Ismail I.H.
Abdul Latiff A.H.
Lee W.S.
Chen T.X.
Liu J.
Jin R.
Wang X.
Chien Y.H.
Yu H.H.
Raj D.
Raj R.
Vaughan J.
Urban M.
Berg S.v.d.
Eley B.
Lee A.C.W.
Isa M.S.
Ang E.Y.
Lee B.W.
Yeoh A.E.J.
Shek L.P.
Quynh Le N.N.
Nguyen V.A.T.
Phan Nguyen Lien A.
Capulong R.D.
Mallillin J.M.
Villanueva J.C.M.M.
Camonayan K.A.B.
Vera M.D.
Casis-Hao R.J.
Lobo R.C.M.
Foronda R.
Binas V.W.E.
Boushaki S.
Kechout N.
Phongsamart G.
Wongwaree S.
Jiratchaya C.
Lao-Araya M.
Trakultivakorn M.
Suratannon N.
Jirapongsananuruk O.
Chantveerawong T.
Kamchaisatian W.
Chan L.L.
Koh M.T.
Wong K.J.
Fong S.M.
Thong M.K.
Latiff Z.A.
Noh L.M.
Silva R.d.
Jouhadi Z.
Al-Saad K.
Vignesh P.
Jindal A.K.
Rawat A.
Gupta A.
Suri D.
Yang J.
Au E.Y.L.
Kwok J.S.Y.
Chan S.Y.
Hui W.Y.F.
Chua G.T.
Duque J.R.
Cheong K.N.
Chong P.C.Y.
Ho M.H.K.
Lee T.L.
Wong W.H.S.
Yang W.
Lee P.P.
Tu W.
Yang X.Q.
Lau Y.L.
Author's Affiliation
Siriraj Hospital
Children’s Hospital of Fudan University
The University of Hong Kong-Shenzhen Hospital
A-Star, Singapore Institute for Clinical Sciences
De La Salle Medical and Health Sciences Institute
National University Health System
The University of Hong Kong Li Ka Shing Faculty of Medicine
Centre Hospitalier et Universitaire de Béni-Messous, Algiers
Shanghai Jiao Tong University School of Medicine
Subang Jaya Medical Centre
Ministry of Health, Kingdom of Bahrain
Beijing Children's Hospital, Capital Medical University
National Taiwan University Hospital
Makati Medical Center
University of the Philippines Manila
University of Santo Tomas Hospital
University of the East Ramon Magsaysay Memorial Medical Center
Philippine General Hospital
Vietnam National Children's Hospital
Children's Hospital No. 1 Ho Chi Minh City
Medical Research Institute Colombo
Universitas Indonesia, RSUPN Dr. Cipto Mangunkusumo
Université des Sciences et de la Technologie Houari Boumediene
Institut Pasteur - Alger
Université de Tunis El Manar, Institut Pasteur de Tunis
Queen Mary Hospital Hong Kong
Faculty of Medicine, Chiang Mai University
University of Delhi
Universiti Malaya
NUS Yong Loo Lin School of Medicine
Universiti Putra Malaysia
Hassan II University of Casablanca
Chongqing Medical University
University of the Witwatersrand, Johannesburg
Faculty of Medicine Ramathibodi Hospital, Mahidol University
KK Women's And Children's Hospital
Mount Elizabeth Medical Centre
Steve Biko Academic Hospital
Kementerian Kesihatan Malaysia
Queen Sirikit National Institute of Child Health
Pantai Holdings Sdn Bhd
Phramongkutklao College of Medicine
Apollo Hospitals Group
Faculty of Medicine, Chulalongkorn University
Universiti Kebangsaan Malaysia
Stellenbosch University
Tongji Medical College
University of Cape Town
Postgraduate Institute of Medical Education & Research, Chandigarh
Asthma and Immunology General Emilio Aguinaldo Memorial Hospital
Hong Kong Children's Hospital
Medical Center Manila
Virtus Medical Group
The Medical City
Fe Del Mundo Medical Center
Children’s Hospital of Fudan University
The University of Hong Kong-Shenzhen Hospital
A-Star, Singapore Institute for Clinical Sciences
De La Salle Medical and Health Sciences Institute
National University Health System
The University of Hong Kong Li Ka Shing Faculty of Medicine
Centre Hospitalier et Universitaire de Béni-Messous, Algiers
Shanghai Jiao Tong University School of Medicine
Subang Jaya Medical Centre
Ministry of Health, Kingdom of Bahrain
Beijing Children's Hospital, Capital Medical University
National Taiwan University Hospital
Makati Medical Center
University of the Philippines Manila
University of Santo Tomas Hospital
University of the East Ramon Magsaysay Memorial Medical Center
Philippine General Hospital
Vietnam National Children's Hospital
Children's Hospital No. 1 Ho Chi Minh City
Medical Research Institute Colombo
Universitas Indonesia, RSUPN Dr. Cipto Mangunkusumo
Université des Sciences et de la Technologie Houari Boumediene
Institut Pasteur - Alger
Université de Tunis El Manar, Institut Pasteur de Tunis
Queen Mary Hospital Hong Kong
Faculty of Medicine, Chiang Mai University
University of Delhi
Universiti Malaya
NUS Yong Loo Lin School of Medicine
Universiti Putra Malaysia
Hassan II University of Casablanca
Chongqing Medical University
University of the Witwatersrand, Johannesburg
Faculty of Medicine Ramathibodi Hospital, Mahidol University
KK Women's And Children's Hospital
Mount Elizabeth Medical Centre
Steve Biko Academic Hospital
Kementerian Kesihatan Malaysia
Queen Sirikit National Institute of Child Health
Pantai Holdings Sdn Bhd
Phramongkutklao College of Medicine
Apollo Hospitals Group
Faculty of Medicine, Chulalongkorn University
Universiti Kebangsaan Malaysia
Stellenbosch University
Tongji Medical College
University of Cape Town
Postgraduate Institute of Medical Education & Research, Chandigarh
Asthma and Immunology General Emilio Aguinaldo Memorial Hospital
Hong Kong Children's Hospital
Medical Center Manila
Virtus Medical Group
The Medical City
Fe Del Mundo Medical Center
Other Contributor(s)
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.