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

本研究分析了自然杀伤细胞（NK）缺陷症的临床特点和基因缺陷.家族性NK细胞缺陷（Komiyama，A.，小儿科，八十五：（1）随着年龄的增长，对感染的过敏性似乎得到改善，循环中的rdT细胞数量逐渐增加。(2)患者有CD 56+细胞，所有这些细胞都是CD 3 + CD 56+细胞，但不是CD 3-CD 56+细胞。这些结果表明，这种疾病是由于缺乏循环NK细胞。(3)然后，进行下一步研究以通过体外培养骨髓细胞来检查NK细胞前体的增殖能力。我们未能在培养系统中存在多种细胞因子或饲养层+ IL-2的组合的情况下培养CD 3-CD 56+细胞。需要进一步的研究来阐明这些缺陷。(4)细胞毒性T细胞穿孔素mRNA表达正常. Chediak-Higashi综合征（1）NK细胞对K562细胞的杀伤活性有缺陷，而对Jurkat细胞的杀伤活性基本正常。后者的活性不施加肿瘤坏死因子-a。(2)perfor介导的细胞毒作用减弱，但其mRNA在NK细胞中正常表达。(3)Fas mRNA表达正常，Fas/Fas配体介导的细胞毒作用正常。3.其他与切尔诺贝利事故有关的疾病如噬血细胞综合征、系统性红斑狼疮、NK细胞异常等，本研究同样分析了这些疾病的NK细胞缺陷。

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.