https://scholars.lib.ntu.edu.tw/handle/123456789/527074
標題: | 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 | 作者: | Lee P.P.W. Chan K.-W. Chen T.-X. Jiang L.-P. Wang X.-C. Zeng H.-S. Chen X.-Y. Liew W.-K. Chen J. Chu K.-M. Chan L.-L. Shek L. Lee A.C.W. HSIN-HUI YU Li Q. Xu C.-G. Sultan-Ugdoracion G. Latiff Z.A. Latiff A.H.A. Jirapongsananuruk O. Ho M.H.K. Lee T.-L. Yang X.-Q. Lau Y.-L. |
關鍵字: | Asian; Chinese; genetics; molecular diagnosis; SCID; Severe combined immunodeficiency | 公開日期: | 2011 | 出版社: | Springer New York LLC | 卷: | 31 | 期: | 2 | 起(迄)頁: | 281-296 | 來源出版物: | Journal of Clinical Immunology | 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?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. ? 2010 Springer Science+Business Media, LLC. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-79959694621&doi=10.1007%2fs10875-010-9489-z&partnerID=40&md5=53d20e1cafdfca2ac791fe216729db5e https://scholars.lib.ntu.edu.tw/handle/123456789/527074 |
ISSN: | 0271-9142 | DOI: | 10.1007/s10875-010-9489-z | SDG/關鍵字: | alemtuzumab; BCG vaccine; busulfan; cell protein; cyclophosphamide; fludarabine; immunoglobulin; interleukin 2 receptor gamma; interleukin 7 receptor; Janus kinase 3; melphalan; nuclear protein; protein AK2; protein DCLRE1C; protein kinase ZAP 70; protein LIG4; RAG1 protein; RAG2 protein; rituximab; thiotepa; thymocyte antibody; unclassified drug; amino acid substitution; article; Asian; Bacillus Calmette Guerin disease; child; Chinese; chronic diarrhea; clinical article; cohort analysis; controlled study; female; gene mutation; graft versus host reaction; hematopoietic stem cell transplantation; human; iatrogenic disease; immunophenotyping; immunosuppressive treatment; infant; inheritance; injection site abscess; lymphadenopathy; male; molecular diagnosis; morbidity; mutational analysis; newborn; preschool child; priority journal; respiratory tract infection; severe combined immunodeficiency; Southeast Asia; survival rate |
顯示於: | 醫學系 |
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