The recognition of abnormal sex chromosome constitution by HLA-restricted anti-H-Y cytotoxic T cells and antibody

Using the cell-mediated lympholysis (CML) technique, we studied lymphocytes of six individuals with discrepancies between the karyotypic and phenotypic sex. Two sets of cytotoxic T cells (CTLs) obtained from two multitransfused female aplastic anemia patients were used as typing reagents. These cells were previously shown to kill allogeneic target cells from HLA-A2- or B7-positive male donors. An antiserum obtained from one of the patients likewise killed HLA-A2 male lymphocytes. The six patients studied were selected for the required antigens. Positive reactions were obtained with lymphocytes from a 46, XY woman with pure gonadal dysgenesis and a 45, XO male. Target cells of the mother of the latter patient were also lysed. One individual with a 45, XO/46, X, del(Y)? karyotype was weakly positive, while three 46, XX males were completely negative. The reactivity of the HLA-A2-restricted H-Y-specific antibody showed the same discriminatory patterns. The results obtained by theHLA-restricted CTLs as well as by the antiserum did not correlate with the presence of testes as is the case in a different test system for the serologically detectable male (SDM) antigen in man. On the other hand, there was a correlation with the presence of cytologically detectable Y-chromosome material in five of the six individuals studied. The HLA-restricted CTLs and the antibody might recognize the classical transplantation antigen H-Y.