Immunological abnormalities in a child with constitutional aplastic anemia

This case report describes a child with severe constitutional hypoplastic anemia and Seckel's syndrome. Immunological analysis on mononuclear peripheral blood cells revealed an abnormally low ratio of T-helper to T-suppressor/cytotoxic cells and a highly increased number of HLA-DR-positive T suppressor/cytotoxic cells. Interferon-gamma and interleukin-2 production by mitogen-stimulated peripheral blood mononuclear cells was slightly reduced, and no spontaneous production of these lymphokines was seen. The immunological abnormalities demonstrated in this case of constitutional aplastic anemia may indicate common features with acquired aplastic anemia.