Studies for gene on immunodeficients' B cells

对免疫缺陷者的B细胞进行了免疫学和遗传学研究。共同变量免疫缺陷(CVI)是一组异质性疾病。首先用商陆有丝分裂原诱导的免疫球蛋白产生系统和金黄色葡萄球菌Cowan I加重组白介素2检测CVI患者的B细胞功能。6例CVI患者的B细胞在活化、增殖和分化过程中均受到干扰。其次，对患者生殖系DNA进行免疫球蛋白(Ig)探针和Southern杂交分析，研究Ig基因的结构。患者的IgH基因未发现缺失和突变。第三，用Northern印迹法检测患者淋巴细胞免疫球蛋白基因的表达。在大多数患者中，每一类Ig基因都不表达。但在部分患者中，C-u基因表达，而C-γ基因不表达。用EB病毒制备B细胞系。对患者B细胞系的免疫球蛋白基因重排进行了研究。在某些情况下，免疫球蛋白基因已经重排，而在另一些情况下，免疫球蛋白基因没有重排。此外，c-myc基因在一些患者中表达，而在另一些患者中不表达。从我们的结果可以清楚地看出，免疫缺陷(特别是a-或低丙种球蛋白血症)的发病机制存在异质性。B细胞活化、Ig基因重排或Ig基因表达异常。

Immunological and genetic studies were carried out for immunodeficients' B cells.Common variable immunodeficiency (CVI) is a heterogeneous group of diseases. Firstly, B cell function was investigated using pokeweed mitogen induced immunaglobulin production system and Staphylococcus aureus Cowan I plus recombinant interleukin 2 on CVI patients. B cells from 6 patients with CVI were disturbed in the process of activation, proliferation and differentiation. Secondary, structure of immunoglobulin (Ig) gene was investigated using Ig probe and Southern blot analysis for germ line DNA of patients. No deletion and mutation was found in patients' IgH gene. Thirdly, expression of Ig gene was investigated using northern blot analysis for lymphocytes of patients. In most patients, each class of Ig gene was not expressed. However, in a part of patients, C mu gene was expressed, but C gamma gene was not expressed. B cell lines were prepared by EB virus. Rearrangement of Ig gene w as investigated for patients' B cell lines. In some cases, Ig genes have been rearranged, whereas in the other cases Ig genes have not been rearranged. Moreover, c-myc gene was expressed in some patients, but not in the other patients.From our results, it became clear that there is heterogeneity in the pathogenesis of immunodeficiency (especially, a- or hypo-gammaglobulinemia). It is abnormality in activation of B cells, rearrangement of Ig gene, or expression of Ig gene.