• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Clinical immunology: The official journal of the Clinical Immunology Society >SYK expression endows human ZAP70-deficient CD8 T cells with residual TCR signaling
【24h】

SYK expression endows human ZAP70-deficient CD8 T cells with residual TCR signaling

机译：SYK表达赋予人ZAP70缺陷型CD8 T细胞残余TCR信号转导

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Autosomal recessive human ZAP70 deficiency is a rare cause of combined immunodeficiency (CID) characterized by defective CD4 T cells and profound CD8 T cell lymphopenia. Herein, we report two novel patients that extend the molecular genetics, the clinical and functional phenotypes associated with the ZAP70 deficiency. The patients presented as infant-onset CID with severe infections caused by varicella zoster virus and live vaccines. Retrospective TCR excision circle newborn screening was normal in both patients. One patient carried a novel non-sense mutation (p.A495fsX75); the other a previously described misense mutation (p.A507V). In contrast to CD4 T cells, the majority of the few CD8 T cells showed expression of the ZAP70-related tyrosine kinase SYK that correlated with residual TCR signaling including calcium flux and degranulation. Our findings highlight the differential requirements of ZAP70 and SYK during thymic development, peripheral homeostasis as well as effector functions of CD4 and CD8 T cells. (C) 2015 Elsevier Inc. All rights reserved.
机译：常染色体隐性人ZAP70缺陷是合并免疫缺陷（CID）的罕见原因，其特征是CD4 T细胞缺陷和CD8 T细胞淋巴细胞减少。在本文中，我们报道了两名新患者，这些患者扩展了与ZAP70缺乏症相关的分子遗传学，临床和功能表型。这些患者表现为婴儿发作的CID，并患有由水痘带状疱疹病毒和活疫苗引起的严重感染。回顾性TCR切除环新生儿筛查均正常。一名患者携带了一个新的无义突变（p.A495fsX75）;另一个是先前描述的错义突变（p.A507V）。与CD4 T细胞相反，少数CD8 T细胞中的大多数显示ZAP70相关酪氨酸激酶SYK的表达，该酪氨酸激酶与残留的TCR信号包括钙通量和脱粒相关。我们的发现突出了胸腺发育，外周稳态以及CD4和CD8 T细胞效应功能期间ZAP70和SYK的差异需求。 （C）2015 Elsevier Inc.保留所有权利。

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