| Research Abstract |
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.
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