Publication:
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

Issued Date

2011-04-01

Resource Type

Article

ISSN

15732592
02719142

DOI

10.1007/s10875-010-9489-z

Other identifier(s)

2-s2.0-79959694621

Rights

Mahidol University

Rights Holder(s)

SCOPUS

Bibliographic Citation

Journal of Clinical Immunology. Vol.31, No.2 (2011), 281-296

Suggested Citation

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 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. Vol.31, No.2 (2011), 281-296. doi:10.1007/s10875-010-9489-z Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/12065

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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

Author(s)

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

Other Contributor(s)

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

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.

Keyword(s)

Immunology and Microbiology
 Medicine

Availability

URI

https://repository.li.mahidol.ac.th/handle/20.500.14594/12065

Collections

Scopus 2011-2015