| Research Abstract |
Immunological and genetical studies were carried out for agammaglobulinemia B cells.
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 variale immunodeficiency.
Bloom syndrome patients have IgM deficiency. This was due to abnormal splicing in mu chain gene expression.
Selective IgA deficiency was due to abnormal class switching in immunoglobulin heavy chain genes.
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).
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