• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Cases Journal >Homozygous R396H mutation of the RAG1 gene in a Saudi infant with Omenn's syndrome: a case report
【24h】

Homozygous R396H mutation of the RAG1 gene in a Saudi infant with Omenn's syndrome: a case report

机译：沙门氏综合征婴儿沙门氏菌RAG1基因纯合R396H突变：病例报告

获取原文
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Introduction The V(D)J rearrangement of B and T cell lymphocytes during the recombination process, which is essential for the development of normal immune system function, depends critically on the presence of the recombination activating enzymes, RAG1 and RAG2. Mutations in RAG1 or RAG2 can lead to a spectrum of disorders, ranging from typical B-T-severe combined immunodeficiency to Omenn's syndrome. Case presentation A two-month-old Saudi baby girl presented with fever, respiratory distress due to bronchiolitis, exfoliative erythroderma and a family history of childhood death within the first few months of life in two of her sisters who had had a similar clinical presentation to her own. Immunological work-up revealed an absence of circulating B lymphocytes, whereas various numbers of activated T lymphocytes were present in the peripheral blood and in the skin. Conclusion In this case, mutation analysis of the recombination activating genes RAG1 or RAG2 revealed a homozygous missense (c.1299G>A) mutation in the RAG1 gene. This is the first report in the literature linking a homozygous R396H mutation in the RAG1 gene with presentation of Omenn's syndrome.
机译：简介重组过程中B和T细胞淋巴细胞的V（D）J重排，这对于正常免疫系统功能的发展至关重要，其关键取决于重组激活酶RAG1和RAG2的存在。 RAG1或RAG2中的突变会导致一系列疾病，从典型的B-T-严重联合免疫缺陷到Omenn综合征。病例报告一名两个月大的沙特女婴在两个月的生命中表现出发烧，由于细支气管炎引起的呼吸窘迫，剥脱性红皮病以及儿童死亡的家族史，其两个姐妹的临床表现与她自己的。免疫学检查显示，循环中的B淋巴细胞不存在，而外周血和皮肤中存在多种活化的T淋巴细胞。结论在这种情况下，重组激活基因RAG1或RAG2的突变分析显示RA​​G1基因的纯合错义（c.1299G> A）突变。这是有关RAG1基因的纯合R396H突变与Omenn综合征的表现相关的文献的首次报道。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号