Studies for causative genes on primary immunodeficiency

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There are many diseases in primary immunodeficiencies. The purpose of this study is to investigate the causative genes and the mutations in the genes. The results obtained are as follows.The defects of the immunoglobulin heavy chain isotype switch in the common variable immunodeficiency patient's (decreased IgG and IgA) B cells were due to failure in the synthesis of germ-line Cgamma transcripts, and this were caused by defects in opening of the chromatin structures of specific regions.Concerning IgG2 deficiency, the reduced expression of imterferongamma messenger RNA playd important role in the IgG2 deficiency of these patients.Bloom syndrome is an antosomal recessive genetic disorder. BLM gene (Bloom syndrome gene) was isolated. BLM cDNA is 4437 bp long and represents a 1417 amino acid residue peptide. The sib cases showed the CAA deletion (homo). As a result, the TAA sequence playd as the stop codon.Ataxia-telangiectasia is an autosomal recesive genetic disorder. ATM gene (ataxia-telangiectasia gene) was isolated. ATM cDNA is 9867 bp long and represents a 3056 amino acid residue peptide. The cases exhibited the mutation or TATTA deletion. These mutations etc occurred the functional abnormalities such as signaling and cell cycle abnormalities.