title: XX T cells and XY B cells in two patients with severe combined immune deficiency.
abstract: Immunologic evaluation of two unrelated male infants with clinical and laboratory evidence of severe combined immunodeficiency (SCID) revealed T cells with a mature phenotype in the peripheral circulation of both patients although both had biopsy evidence of thymic alymphoplasia. Both had a normal number of T cells with a cytotoxic/suppressor surface marker (OKT8) but very few T helper cells (OKT4). Lymphocyte stimulation with the mitogens PHA, Con A, and pokeweed or with allogeneic cells resulted in no proliferation. However, addition of T cell growth factor, plus the phorbol ester TPA, to lymphocytes cultured with the T cell mitogen PHA did result in some proliferation of T cells. In both cases these T cells demonstrated an XX female karyotype and were probably of maternal origin. In contrast, proliferating B cells stimulated with Epstein-Barr virus demonstrated a normal XY male karyotype. The possibility that severe combined immune deficiency in these patients was the result of graft-versus-host disease induced by maternal lymphocytes is discussed.
mesh_terms: D000328:Adult; D001402:B-Lymphocytes / Q000145:classification / Q000276:immunology*; D002678:Chimera; D005260:Female; D006086:Graft vs Host Disease / Q000235:genetics / Q000276:immunology; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D007621:Karyotyping; D007958:Leukocyte Count; D008213:Lymphocyte Activation; D008297:Male; D010375:Pedigree; D012730:Sex Chromosomes / Q000276:immunology*; D013601:T-Lymphocytes / Q000145:classification / Q000276:immunology*; D013950:Thymus Gland / Q000473:pathology