The genetic and immunologic abnormalities associated with the pathogenesis of moya-moya were assessed in 23, 13 children and 10 adults with angiographically diagnosed moya-moya. In HLA-A, -B, -C stereotyping, an association was found of AW24, BW46, and BW54 with relative risks of 3.83, 6.50, and 3.58 respectively. Natural T cell toxic autoantibody was detected by FACS analysis in sera from five out of 23 patients. Millipore filter assay for autoantibody against double-stranded DNA revealed higher than normal binding in sera from four out of 18 patients. Anti-vessel antibody which might be responsible for vascular change associated with moya-moya was not detected in any of the 23 patients studied. Significant association of the disease with certain HLA types, in addition to the presence of natural T cell toxic autoantibody and anti-double-stranded DNA antibody in patients' sera, supports the theory that genetic and immunologic disturbances may underly the pathogenesis of moya-moya.
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