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.

Autor:	Chan KW; 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., Wong CY; 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., Leung D; 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., Yang X; 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., Fok SFS; 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., Mak PHS; 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., Yao L; 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., Ma W; 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., Mao H; Department of Immunology, Ministry of Education Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China., Zhao X; Children's Hospital, Chongqing Medical University, Chongqing, China., Liang W; Shenzhen Primary Immunodeficiency Diagnostic and Therapeutic Laboratory, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China., Singh S; Pediatric Allergy and Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India., Barbouche MR; Institut Pasteur de Tunis, Université Tunis El Manar, Tunis, Tunisia., He JX; Department of Respiratory Medicine, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China., Jiang LP; Children's Hospital, Chongqing Medical University, Chongqing, China., Liew WK; Department of Paediatric Medicine, KK Women's and Children's Hospital, Singapore, Singapore., Le MHT; Department of Immuno-Allergology and Rheumatology, National Hospital of Paediatrics, Hanoi, Vietnam., Muktiarti D; Department of Child Health, Faculty of Medicine Universitas Indonesia-Cipto Mangunkusumo Hospital, Jakarta, Indonesia., Santos-Ocampo FJ; Section of Allergy and Immunology, Department of Pediatrics, Makati Medical Center, Makati City, Philippines., Djidjik R; Department of Medical Immunology, Beni Messous University Hospital Centre, University of Algiers 1, Algiers, Algeria., Belaid B; Department of Medical Immunology, Beni Messous University Hospital Centre, University of Algiers 1, Algiers, Algeria., Ismail IH; Clinical Immunology Unit, Department of Paediatrics, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Selangor, Malaysia., Abdul Latiff AH; Allergy and Immunology Centre, Pantai Hospital Kuala Lumpur, Kuala Lumpur, Malaysia., Lee WS; Department of Paediatrics, Faculty of Medicine, University Malaya, Kuala Lumpur, Malaysia., Chen TX; Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China., Liu J; Department of Respiratory Medicine, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China., Jin R; Department of Pediatrics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China., Wang X; Department of Clinical Immunology, Children's Hospital of Fudan University, Shanghai, China., Chien YH; Department of Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei, Taiwan., Yu HH; Division of Allergy, Immunology and Rheumatology, Department of Pediatrics, National Taiwan University Children's Hospital, Taipei, Taiwan., Raj D; Department of Paediatrics, Holy Family Hospital, University of Delhi, New Delhi, India., Raj R; Department of Paediatric Haematology, Oncology, Blood and Marrow Transplantation, Apollo Hospitals, Chennai, India., Vaughan J; Department of Molecular Medicine and Haematology, National Health Laboratory Services, University of the Witwatersrand, Johannesburg, South Africa., Urban M; Division of Molecular Biology and Human Genetics, University of Stellenbosch Western Cape, Pretoria, South Africa., van den Berg S; Department of Immunology, Ampath and Department of Paediatrics and Child Health, University of Pretoria and Steve Biko Academic Hospital, Pretoria, South Africa., Eley B; Department of Paediatrics and Child Health, University of Cape Town and Red Cross War Memorial Children's Hospital, Cape Town, South Africa., Lee AC; Children's Haematology and Cancer Center, Mount Elizabeth Hospital, Singapore, Singapore., Isa MS; Khoo Teck Puat-National University Children's Medical Institute, National University Health System, Singapore, Singapore., Ang EY; Khoo Teck Puat-National University Children's Medical Institute, National University Health System, Singapore, Singapore., Lee BW; Khoo Teck Puat-National University Children's Medical Institute, National University Health System, Singapore, Singapore.; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Yeoh AEJ; Khoo Teck Puat-National University Children's Medical Institute, National University Health System, Singapore, Singapore.; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Shek LP; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.; Singapore Institute for Clinical Sciences, Agency for Science, Technology and Research (ASTAR), Singapore, Singapore., Quynh Le NN; National Hospital of Pediatrics, Hanoi, Vietnam., Nguyen VAT; Department of Rheumatology, Allergy, and Immunology, Vietnam National Children's Hospital, Hanoi, Vietnam., Phan Nguyen Lien A; Children's Hospital 1, Ho Chi Minh City, Vietnam., Capulong RD; Department of Pediatrics, ManilaMed, Manila, Philippines., Mallillin JM; Child and Adult Allergy, Asthma and Immunology General Emilio Aguinaldo Memorial Hospital, Cavite, Philippines., Villanueva JCMM; Section of Allergy and Clinical Immunology, Department of Pediatrics, University of Santo Tomas Hospital, Manila, Philippines., Camonayan KAB; Philippine General Hospital, University of the Philippines, Manila, Philippines., Vera M; Section of Allergy and Immunology, The Medical City, Pasig, Philippines., Casis-Hao RJ; Division of Allergy and Clinical Immunology, Department of Pediatrics, Philippine General Hospital, Manila, Philippines., Lobo RCM; Section of Allergy Asthma and Immunology, Fe del Mundo Medical Center, Quezon City, Philippines., Foronda R; Department of Pediatrics, University of the East Ramon Magsaysay Memorial Medical Center, Quezon City, Philippines., Binas VWE; De La Salle Health Sciences Institute, Dasmarinas, Philippines., Boushaki S; Department of Medical Immunology, Beni Messous University Hospital Centre, University of Algiers 1, Algiers, Algeria.; Unit of Genetics, Laboratory of Molecular and Cellular Biology, Faculty of Biological Sciences, University of Sciences and Technology 'HouariBoumediene', Algiers, Algeria., Kechout N; Department of Immunology, Pasteur Institute of Algeria/Faculty of Medicine, Algiers, Algeria., Phongsamart G; Department of Pediatrics, Queen Sirikit National Institute of Child Health, Bangkok, Thailand., Wongwaree S; Department of Pediatrics, Queen Sirikit National Institute of Child Health, Bangkok, Thailand., Jiratchaya C; Department of Pediatrics, Queen Sirikit National Institute of Child Health, Bangkok, Thailand., Lao-Araya M; Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand., Trakultivakorn M; Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand., Suratannon N; 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., Jirapongsananuruk O; Division of Allergy and Clinical Immunology, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand., Chantveerawong T; Division of Allergy and Clinical Immunology, Department of Medicine, Phramongkutklao Hospital, Bangkok, Thailand., Kamchaisatian W; Division of Pediatrics Allergy and Immunology, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand., Chan LL; Subang Jaya Medical Centre, Subang Jaya, Malaysia., Koh MT; Department of Paediatrics, Faculty of Medicine, University Malaya, Kuala Lumpur, Malaysia., Wong KJ; Department of Paediatrics, Likas Hospital, Ministry of Health, Sabah, Malaysia., Fong SM; Department of Paediatrics, Likas Hospital, Ministry of Health, Sabah, Malaysia., Thong MK; Genetics and Metabolism Unit, Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Latiff ZA; Department of Pediatrics, Universiti Kebangsaan Malaysia, Kuala Lumpur, Malaysia., Noh LM; Department of Pediatrics, Universiti Kebangsaan Malaysia, Kuala Lumpur, Malaysia.; Department of Paediatrics, Hospital Tunku Azizah, Ministry of Health Malaysia, Kuala Lumpur, Malaysia., de Silva R; Department of Immunology, Medical Research Institute, Colombo, Sri Lanka., Jouhadi Z; Department of Pediatric Infectious Diseases, Children's Hospital CHU Ibn Rochd, University Hassan 2, Casablanca, Morocco., Al-Saad K; Department of Pediatrics, Salmaniya Medical Complex, Manama, Bahrain., Vignesh P; Pediatric Allergy and Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India., Jindal AK; Pediatric Allergy and Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India., Rawat A; Pediatric Allergy and Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India., Gupta A; Pediatric Allergy and Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India., Suri D; Pediatric Allergy and Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India., Yang J; 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., Au EY; Division of Clinical Immunology, Department of Pathology, Queen Mary Hospital, Hong Kong, Hong Kong SAR, China., Kwok JS; Division of Transplantation and Immunogenetics, Department of Pathology, Queen Mary Hospital, Hong Kong, Hong Kong SAR, China., Chan SY; 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., Hui WY; 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., Chua GT; 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., Duque JR; 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., Cheong KN; Hong Kong Children's Hospital, Hong Kong, Hong Kong SAR, China., Chong PCY; Virtus Medical, Hong Kong, Hong Kong SAR, China., Ho MHK; Virtus Medical, Hong Kong, Hong Kong SAR, China., Lee TL; Hong Kong Children's Hospital, Hong Kong, Hong Kong SAR, China., Wong WH; 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., Yang W; 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., Lee PP; 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., Tu W; 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., Yang XQ; Children's Hospital, Chongqing Medical University, Chongqing, China., Lau YL; 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.
Jazyk:	angličtina
Zdroj:	Frontiers in immunology [Front Immunol] 2022 Jul 08; Vol. 13, pp. 883446. Date of Electronic Publication: 2022 Jul 08 (Print Publication: 2022).
DOI:	10.3389/fimmu.2022.883446
Abstrakt:	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. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (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.)
Databáze:	MEDLINE
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