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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.
MedLine Citation:
PMID:  21184155     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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.
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
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2010-12-24
Journal Detail:
Title:  Journal of clinical immunology     Volume:  -     ISSN:  1573-2592     ISO Abbreviation:  -     Publication Date:  2010 Dec 
Date Detail:
Created Date:  2010-12-24     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8102137     Medline TA:  J Clin Immunol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
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