Molecular Diagnosis of Severe Combined Immunodeficiency鈥擨dentification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 Mutations in a Cohort of Chinese and Southeast Asian Children
| 详细信息 | 推荐本文 | |
- 作者：Pamela P. W. Lee (1)
Koon-Wing Chan (1)
Tong-Xin Chen (2)
Li-Ping Jiang (3)
Xiao-Chuan Wang (4)
Hua-Song Zeng (5)
Xiang-Yuan Chen (5)
Woei-Kang Liew (6)
Jing Chen (7)
Kit-Man Chu (1)
Lee-Lee Chan (8)
Lynette Shek (9)
Anselm C. W. Lee (10)
Hsin-Hui Yu (11)
Qiang Li (12)
Chen-Guang Xu (13)
Geraldine Sultan-Ugdoracion (14)
Zarina Abdul Latiff (15)
Amir Hamzah Abdul Latiff (16)
Orathai Jirapongsananuruk (17)
Marco H. K. Ho (1)
Tsz-Leung Lee (1)
Xi-Qiang Yang (3)
Yu-Lung Lau (1) lauylung@hkucc.hku.hk - 关键词：Severe combined immunodeficiency – ; SCID – ; molecular diagnosis – ; genetics – ; Chinese – ; Asian
- 刊名：Journal of Clinical Immunology
- 出版时间：April 2011
- 出版年：2011
- 期刊代码：13_02719142
- 类别：env
- 卷：31
- 期：2
- 页码：281-296
- 数据来源：sp
摘要
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–Gu茅rin 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.