Lymphocyte subpopulations in Down's syndrome: high percentage of circulating HNK-1+, Leu 2a+ cells

Peripheral blood lymphomononuclear cells (PBL) from 35 patients with Down's syndrome (DS, trisomy-21; 25 institutionalized and 10 non-institutionalized) were phenotypically characterized by means of various monoclonal antibodies. They included a high percentage of T lymphocytes with low avidity for sheep erythrocytes as well as an extremely high percentage of HNK-1+ cells and of lymphocytes reacting with the OKT8 and Leu 2a antibodies. The HNK-1+ cells of DS include four different subsets: (a) E+, OKT3+, OKT8-, Leu 2a-; (b) E+, OKT3+, OKT8+, Leu 2a+; (c) E-, OKT3-, OKT8-, Leu 2a- and (d) E-, OKT3-, OKT8+, Leu 2a+. Subsets (a) and (c) are also present in PBL from karyotypically normal controls while subsets (b) and (d) have a phenotype which has not been previously reported. These findings may be related to the triple expression by trisomic cells of the receptor for interferon, which is coded by a gene located on chromosome number 21. Alternatively, the high number of 'immature' NK cells of DS, possibly identical with pre-T lymphocytes, may originate from the congenital thymic derangement associated with trisomy 21.