Browsing by Author "Geraldine Sultan-Ugdoracion"

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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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    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.

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