Studies for gene on congenital immundeficiency

常见变异型免疫缺陷病（CVI）是一组异质性疾病，其遗传学和免疫学特征已被广泛研究。首先，利用IG探针和Southern印迹杂交技术对患者生殖细胞系DNA进行了免疫球蛋白（IG）基因结构分析。未发现IgH基因缺失和突变。其次，采用北方印迹分析患者淋巴细胞的IG基因表达。大部分患者的各类IG基因均不表达。但部分患者Cmu基因表达，Cgamma基因不表达。通过EB病毒制备B细胞系。对患者的B细胞系进行了IG基因重排研究。在某些情况下，IG基因已经重排，而在其他情况下，IG基因没有重排。此外，在一些常见的变异型免疫缺陷中也存在染色质结构异常，Bloom综合征患者存在IgM缺陷。在Wiskott-Aldrich综合征、共济失调-毛细血管扩张症和IgG 2缺乏症中，我们发现了与其基因相关的非常重要的发现：在IgG 2缺乏症中，发现了干扰素-γ表达缺陷，在共济失调-毛细血管扩张症中，发现了与Ca相关的细胞内信号转导缺陷。

Immunological and genetical studies were carried out for primary immunodeficiency.Common variable immunodeficiency (CVI) is a heterogeneous group of diseases. Firstly, 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. Secondary, 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 Cgamma gene was not expressed. B cell lines were prepared by EB virus. Rearrangement of Ig gene was 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, there are abnormal chromatin structures in some common variable immunodeficiency.Bloom syndrome patients have IgM deficiency. This was due to abnormal alternative splicing in mu chain gene expression, membrane type and secreted type.In Wiskott-Aldrich syndrome, Ataxia-telangiectasia and IgG2 deficiency, we have found very important findings that were referred with their gene.In IgG2 deficiency, defective interferon-gamma expression was found, and in Ataxia-telangiectasia, intracellular signal transduction referred with Ca was defected.