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Title: 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
Authors: 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
Keywords: Immunology and Microbiology;Medicine
Issue Date: 1-Apr-2011
Citation: Journal of Clinical Immunology. Vol.31, No.2 (2011), 281-296
Abstract: 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.
ISSN: 15732592
Appears in Collections:Scopus 2011-2015

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