...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Novel mutation in perforin gene causing familial hemophagocytic lymphohistiocytosis type 2 in an Egyptian infant: case report
【24h】

Novel mutation in perforin gene causing familial hemophagocytic lymphohistiocytosis type 2 in an Egyptian infant: case report

机译：穿孔基因的新突变，导致埃及婴儿的家族血糖淋巴管肾小球菌症2型2型：案例报告

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

摘要

Background:Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of pathological immune activation characterized by clinical signs and symptoms of extreme inflammation. It results from the uninhibited proliferation and activation of cells of the macrophage lineage and leads to the production of excess amounts of pro-inflammatory cytokines. The familial form of HLH disease is due to mutations in several genes necessary for natural killer (NK) cell and T cell granule-mediated cytotoxic function. These genes are involved in sorting, trafficking, docking, and fusion of cytotoxic granules containing granzymes A and B and perforin to the cell membrane of the target cell (using the proteins LYST, AP-3 complex, Rab27a, Munc 13–4, Munc 18–2, syntaxin 11). Defect in any of those proteins results in defective cytotoxicity. Consequently, genes included in these steps play valuable roles in the pathogenesis of familial HLH disease including perforin (PRF1) gene in which defect causes familial HLH type 2 (FHL2).Case presentationA 2-year-old boy suffered from hepatosplenomegaly and fever. He fulfilled the required criteria for the diagnosis of HLH according to HLH-2004 diagnostic criteria. We screened the patient for the presence of mutations in the coding exons and of PRF1 gene by PCR amplification of genomic DNA followed by direct sequencing of the PCR products. We report a novel homozygous deletion/insertion frameshift mutation in PRF1 gene (M28393: exon 2: c.536delAinsCG p.F178fs). We treated him with HLH 2004 protocol of treatment and showed a remarkable response with resolution of fever and decrement in the size of hepatosplenomegaly.ConclusionsOur study discovered a novel frameshift mutation in PRF1 gene in an infant with HLH disease, and it is the first report of this type of mutation in Egyptian patients with this disease.
机译：背景：血细胞淋巴管激尿精（HLH）是病理免疫激活的综合征，其特征是临床症状和极端炎症的症状。由巨噬细胞谱系的不诱变的增殖和激活产生，导致生产过量的促炎细胞因子。 HLH病的家族形式是由于自然杀伤（NK）细胞和T细胞颗粒介导的细胞毒性功能所必需的几种基因中的突变。这些基因涉及分类，贩运，对接和融合细胞毒性颗粒的细胞毒性颗粒和靶细胞的细胞膜（使用蛋白质Lyst，AP-3复合物，Rab27a，Munc 13-4，Munc 18-2，语法11）。任何蛋白质中的缺陷导致细胞毒性有缺陷。因此，在这些步骤中包括的基因在包括缺陷导致家庭HLH型（FHL2）的缺陷导致家族性HLH型基因的家族性HLH疾病的发病机制中起草有价值的作用。患有肝脾肿大和发烧。根据HLH-2004诊断标准，他满足了诊断HLH所需标准。我们通过PCR扩增基因组DNA的PCR扩增，筛选患者在编码外显子和 PRF1 基因中的存在，然后直接测序PCR产物。我们在 prf1 基因中报告了一种新型纯合缺失/插入帧突变（M28393：外显子2：C.536Delainscg P.F178FS）。我们用HLH 2004的治疗方案对待他，并呈现出对肝脾肿大的大小的发热和衰减的显着反应。Conclusionsour研究发现了一种具有HLH疾病的婴儿在婴儿的 Prf1 基因中的新型帧突变。并且是埃及患者这种疾病患者这种突变的第一个报告。

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