Studies for gene on congenital immundeficiency

对原发性免疫缺陷进行了免疫学和遗传学研究。常见变异性免疫缺陷（CVI）是一种异质性疾病。首先，利用免疫球蛋白（Ig）探针和Southern blot技术对患者生殖系DNA进行了免疫球蛋白（Ig）基因结构的研究。患者的IgH基因未见缺失和突变。其次，采用northern blot法检测患者淋巴细胞Ig基因的表达。在大多数患者中，每一类Ig基因都不表达。但部分患者有C mu基因表达，而Cgamma基因未表达。用EB病毒制备了B细胞系。对患者B细胞系Ig基因重排进行了研究。在某些情况下，Ig基因被重排，而在其他情况下，Ig基因没有被重排。此外，在一些常见的变异性免疫缺陷中存在染色质结构异常。布鲁姆综合征患者有IgM缺乏症。这是由于mu链基因表达、膜型和分泌型的异常选择性剪接所致。在Wiskott-Aldrich综合征、共济失调毛细血管扩张症和IgG2缺乏症中，我们已经发现了与他们的基因相关的非常重要的发现。在IgG2缺乏症中，发现干扰素γ表达缺陷，在共济失调毛细血管扩张症中，与Ca相关的细胞内信号转导存在缺陷。

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.