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Lee, Pamela P. W.; Chan, Koon-Wing; Chen, Tong-Xin; Jiang, Li-Ping; Wang, Xiao-Chuan; Zeng, Hua-Song; Chen, Xiang-Yuan; Liew, Woei-Kang; Chen, Jing; Chu, Kit-Man; Chan, Lee-Lee; Shek, Lynette; Lee, Anselm C. W.; Yu, Hsin-Hui; Li, Qiang; Xu, Chen-Guang; Sultan-Ugdoracion, Geraldine; Latiff, Zarina Abdul; Latiff, Amir Hamzah Abdul; Jirapongsananuruk, Orathai; Ho, Marco H. K.; Lee, Tsz-Leung; Yang, Xi-Qiang; Lau, Yu-Lung
Journal of clinical immunology, 04/2011, Letnik: 31, Številka: 2Journal Article
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.
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Dostop do baze podatkov JCR je dovoljen samo uporabnikom iz Slovenije. Vaš trenutni IP-naslov ni na seznamu dovoljenih za dostop, zato je potrebna avtentikacija z ustreznim računom AAI.
Leto | Faktor vpliva | Izdaja | Kategorija | Razvrstitev | ||||
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Baze podatkov, v katerih je revija indeksirana
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Povezave do osebnih bibliografij avtorjev | Povezave do podatkov o raziskovalcih v sistemu SICRIS |
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Vir: Osebne bibliografije
in: SICRIS
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