Browsing by Author "Tong Xin Chen"

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    Erratum: Molecular diagnosis of severe combined immunodeficiency - Identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 mutations in a cohort of Chinese and southeast Asian children (Journal of Clinical Immunology (2011) 31 (281-296) DOI 10.1007/s10875-010-9489-z)
    (2013-08-16) Pamela P.W. Lee; Koon Wing Chan; Tong Xin Chen; Li Ping Jiang; Xiao Chuan Wang; Hua Song Zeng; Xiang Yuan Chen; Woei Kang Liew; Jing Chen; Kit Man Chu; Lee Lee Chan; Lynette Pei Chi Shek; Anselm C.W. Lee; Hsin Hui Yu; Qiang Li; Chen Guang Xu; Geraldine Sultan-Ugdoracion; Zarina Abdul Latiff; Amir Hamzah Abdul Latiff; Orathai Jirapongsananuruk; Marco H.K. Ho; Tsz Leung Lee; Xi Qiang Yang; Yu Lung Lau; The University of Hong Kong Li Ka Shing Faculty of Medicine; Shanghai Jiao Tong University School of Medicine; Chongqing Medical University; Shanghai Children's Medical Center; Guangzhou Children's Hospital; KK Children's Hospital; University of Malaya Medical Centre; National University of Singapore; Mount Elizabeth Medical Centre; National Taiwan University Hospital; West China Hospital of Sichuan University; Sun Yat-Sen University; San Pedro Hospital; Universiti Kebangsaan Malaysia; Monash University Malaysia; Mahidol University
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    Family history of early infant death correlates with earlier age at diagnosis but not shorter time to diagnosis for severe combined immunodeficiency
    (2017-07-12) Anderson Dik Wai Luk; Pamela P. Lee; Huawei Mao; Koon Wing Chan; Xiang Yuan Chen; Tong Xin Chen; Jian Xin He; Nadia Kechout; Deepti Suri; Yin Bo Tao; Yong Bin Xu; Li Ping Jiang; Woei Kang Liew; Orathai Jirapongsananuruk; Tassalapa Daengsuwan; Anju Gupta; Surjit Singh; Amit Rawat; Amir Hamzah Abdul Latiff; Anselm Chi Wai Lee; Lynette P. Shek; Thi Van Anh Nguyen; Tek Jee Chin; Yin Hsiu Chien; Zarina Abdul Latiff; Thi Minh Huong Le; Nguyen Ngoc Quynh Le; Bee Wah Lee; Qiang Li; Dinesh Raj; Mohamed Ridha Barbouche; Meow Keong Thong; Maria Carmen D. Ang; Xiao Chuan Wang; Chen Guang Xu; Hai Guo Yu; Hsin Hui Yu; Tsz Leung Lee; Felix Yat Sun Yau; Wilfred Hing Sang Wong; Wenwei Tu; Wangling Yang; Patrick Chun Yin Chong; Marco Hok Kung Ho; Yu Lung Lau; The University of Hong Kong; Guangzhou Children's Hospital; Shanghai Jiao Tong University School of Medicine; Beijing Children's Hospital; Institut Pasteur - Alger; Postgraduate Institute of Medical Education and Research; Guangzhou Women and Children's Medical Center; Chongqing Medical University; KK Women's And Children's Hospital; Mahidol University; Queen Sirikit National Institute of Child Health; Monash University Malaysia; Mount Elizabeth Medical Centre; National University of Singapore; National Children's Hospital; Sarawak General Hospital; National Taiwan University; Universiti Kebangsaan Malaysia; Sichuan Second West China Hospital; Holy Family Hospital; University of Tunis El Manar; University of Malaya; San Pedro Hospital; Shanghai Children's Medical Center; Sun Yat-Sen University; Nanjing Children's Hospital; Queen Elizabeth Hospital Hong Kong
    © 2017 Luk, Lee, Mao, Chan, Chen, Chen, He, Kechout, Suri, Tao, Xu, Jiang, Liew, Jirapongsananuruk, Daengsuwan, Gupta, Singh, Rawat, Abdul Latiff, Lee, Shek, Nguyen, Chin, Chien, Latiff, Le, Le, Lee, Li, Raj, Barbouche, Thong, Ang, Wang, Xu, Yu, Yu, Lee, Yau, Wong, Tu, Yang, Chong, Ho and Lau. Background: Severe combined immunodeficiency (SCID) is fatal unless treated with hematopoietic stem cell transplant. Delay in diagnosis is common without newborn screening. Family history of infant death due to infection or known SCID (FH) has been associated with earlier diagnosis. Objective: The aim of this study was to identify the clinical features that affect age at diagnosis (AD) and time to the diagnosis of SCID. Methods: From 2005 to 2016, 147 SCID patients were referred to the Asian Primary Immunodeficiency Network. Patients with genetic diagnosis, age at presentation (AP), and AD were selected for study. Results: A total of 88 different SCID gene mutations were identified in 94 patients, including 49 IL2RG mutations, 12 RAG1 mutations, 8 RAG2 mutations, 7 JAK3 mutations, 4 DCLRE1C mutations, 4 IL7R mutations, 2 RFXANK mutations, and 2 ADA mutations. A total of 29 mutations were previously unreported. Eighty-three of the 94 patients fulfilled the selection criteria. Their median AD was 4 months, and the time to diagnosis was 2 months. The commonest SCID was X-linked (n = 57). A total of 29 patients had a positive FH. Candidiasis (n = 27) and bacillus Calmette-Guérin (BCG) vaccine infection (n = 19) were the commonest infections. The median age for candidiasis and BCG infection documented were 3 months and 4 months, respectively. The median absolute lymphocyte count (ALC) was 1.05 × 109/L with over 88% patients below 3 × 109/L. Positive FH was associated with earlier AP by 1 month (p = 0.002) and diagnosis by 2 months (p = 0.008), but not shorter time to diagnosis (p = 0.494). Candidiasis was associated with later AD by 2 months (p = 0.008) and longer time to diagnosis by 0.55 months (p = 0.003). BCG infections were not associated with age or time to diagnosis. Conclusion: FH was useful to aid earlier diagnosis but was overlooked by clinicians and not by parents. Similarly, typical clinical features of SCID were not recognized by clinicians to shorten the time to diagnosis. We suggest that lymphocyte subset should be performed for any infant with one or more of the following four clinical features: FH, candidiasis, BCG infections, and ALC below 3 × 109/L.
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    Molecular diagnosis of severe combined immunodeficiency - Identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 mutations in a cohort of Chinese and Southeast Asian children
    (2011-04-01) Pamela P.W. Lee; Koon Wing Chan; Tong Xin Chen; Li Ping Jiang; Xiao Chuan Wang; Hua Song Zeng; Xiang Yuan Chen; Woei Kang Liew; Jing Chen; Kit Man Chu; Lee Lee Chan; Lynette Shek; Anselm C.W. Lee; Hsin Hui Yu; Qiang Li; Chen Guang Xu; Geraldine Sultan-Ugdoracion; Zarina Abdul Latiff; Amir Hamzah Abdul Latiff; Orathai Jirapongsananuruk; Marco H.K. Ho; Tsz Leung Lee; Xi Qiang Yang; Yu Lung Lau; The University of Hong Kong Li Ka Shing Faculty of Medicine; Shanghai Jiao Tong University School of Medicine; Chongqing Medical University; Shanghai Children's Medical Center; Guangzhou Children's Hospital; KK Children's Hospital; University of Malaya Medical Centre; National University of Singapore; Mount Elizabeth Medical Centre; National Taiwan University Hospital; West China Hospital of Sichuan University; Sun Yat-Sen University; San Pedro Hospital; Universiti Kebangsaan Malaysia; Monash University Malaysia; Mahidol University
    Severe combined immunodeficiencies (SCID) are a group of rare inherited disorders with profound defects in T cell and B cell immunity. From 2005 to 2010, our unit performed testing for IL2RG, JAK3, IL7R, RAG1, RAG2, DCLRE1C, LIG4, AK2, and ZAP70 mutations in 42 Chinese and Southeast Asian infants with SCID adopting a candidate gene approach, based on patient's gender, immune phenotype, and inheritance pattern. Mutations were identified in 26 patients, including IL2RG (n=19), IL7R (n=2), JAK3 (n=2), RAG1 (n=1), RAG2 (n=1), and DCLRE1C (n=1). Among 12 patients who underwent hematopoietic stem cell transplantation, eight patients survived. Complications and morbidities during transplant period were significant, especially disseminated bacillus Calmette-Guérin disease which was often difficult to control. This is the first cohort study on SCID in the Chinese and Southeast Asian population, based on a multi-centered collaborative research network. The foremost issue is service provision for early detection, diagnosis, management, and definitive treatment for patients with SCID. National management guidelines for SCID should be established, and research into an efficient platform for genetic diagnosis is needed. © 2010 Springer Science+Business Media, LLC.