Analysis of gene defects related to NK cell deficiency : Establishment of the disorder as a new immunodeficiency

与 NK 细胞缺陷相关的基因缺陷分析：确立该疾病为新的免疫缺陷

基本信息

批准号：
08457222
负责人：
KOMIYAMA Atsushi
金额：
$ 2.56万
依托单位：
Shinshu University
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (B)
财政年份：
1996
资助国家：
日本
起止时间：
1996 至 1997
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-08457222/
关键词：
NK cell NK cell deficiency familial NK cell deficiency Chediak-Higashi syndrome perforin Fas Fas ligand immunodericiency

项目摘要

The present studies were conducted to analyze the clinical chatacteristics and gene defects of natural killer (NK) cell deficiencies.1. Familial NK cell deficieny (Komiyama, A., Pediatr., 85 : 323,1990)(1) The hypersusceptibility to infections appears to be improved with age, with a gradual increase in the number of circulating rdT cells.(2) The patients have CD56+ cells, all of which are CD3+CD56+ cells but not CD3-CD56+ cells. These results indicate that this disorder is due to the absence of circulating NK cells.(3) Then, next studies were performed to examine the proliferative capacity of NK cell precursors by culturing the bone marrow cells in vitro. We failed to culture CD3-CD56+ cells in the presence of a combination of many cytokines or feeder layrs + IL-2 in the culture system. Further studies are necessary to elucidate the defects.(4) The expression of perforin mRNA was normal in the cytotoxic T cells.2. Chediak-Higashi syndrome(1) NK cell activity was defective against K562 cells but almost normal against Jurkat cells. The latter activity was not exerted by tumor necrosis factor-a.(2) The perfor in-mediated cytotoxicity was impaired, but its mRNA was normally expressedin the NK cells.(3) The Fas mRNA expression was normal, and Fas/Fas ligand-mediated cytotoxicity via apoptosis was normal.3.Other disorders such as hemophagocytic syndrome, systemic lupus erythematosus, and NK cell abnormality related to the Chernobyl accident.The NK cell deficiencies in these disordeers were similarly analyzed in the present studies.

进行了本研究，以分析天然杀手（NK）细胞缺陷的临床聊天术和基因缺陷1。家族性NK细胞缺乏症（Komiyama，A.，Pediatr。，85：323,1990）（1）感染的超敏化性似乎随着年龄的增长而改善，并且循环RDT细胞的数量逐渐增加。（2）患者患者患有CD3+ CD3+ CD56+ CD3+ CD3+ CD356-CD56-CD56-CD56+细胞。这些结果表明，这种疾病是由于缺乏循环NK细胞引起的。（3）然后，进行了下一项研究，以检查NK细胞前体的增殖能力，通过在体外培养骨髓细胞。在培养系统中许多细胞因子或进料器layrs + IL-2的组合中，我们未能培养CD3-CD56 +细胞。（4）细胞毒性T细胞中穿孔蛋白mRNA的表达是正常的，需要进一步的研究。2。 Chediak-Higashi综合征（1）NK细胞活性对K562细胞有缺陷，但对Jurkat细胞几乎正常。后一种活性未通过肿瘤坏死因子A施加。（2）（2）触发内介导的细胞毒性受损受损，但其mRNA通常表达NK细胞。（3）FAS mRNA表达正常，FAS/FAS/FAS通过Apoptosy构成了FAS/FAS介导的细胞毒性，例如正常。在本研究中，类似地分析了这些疾病中的NK细胞缺乏症与Chernobyl事故有关。