title: A hereditary immunodeficiency characterized by CD8+ T lymphocyte deficiency and impaired lymphocyte activation.
abstract: An unusual form of severe combined immunodeficiency in children from two different families was associated with absence of CD8+ T lymphocytes and normal numbers of CD4+ T lymphocytes that did not respond to stimulation by non-specific mitogens, specific antibodies against T cell receptor or specific antigens. The defect in the CD4+ cells was bypassed by activating agents which are independent of the T cell receptor. The combination of an activation defect and selective depletion of CD8+ T lymphocytes suggests that the defective pathway is important in the differentiation of immature thymocytes as well as the proliferation of mature lymphocytes.
authors.affiliation: Department of Pediatrics, Washington University School of Medicine, St Louis, MO.
authors.forename: W J
authors.initials: WJ
authors.lastname: Monafo
authors.forename: S H
authors.initials: SH
authors.lastname: Polmar
authors.forename: S
authors.initials: S
authors.lastname: Neudorf
authors.forename: A
authors.initials: A
authors.lastname: Mather
authors.forename: A H
authors.initials: AH
authors.lastname: Filipovich
mesh_terms: D001773:Blood Cells / Q000276:immunology; D017252:CD3 Complex / Q000494:pharmacology; D016827:CD8 Antigens / Q000032:analysis* / Q000097:blood; D015220:Calcium Channels / Q000502:physiology; D005192:Family Health; D005260:Female; D005455:Fluorescent Antibody Technique; D006801:Humans; D007223:Infant; D008213:Lymphocyte Activation / Q000187:drug effects; D008212:Lymphocyte Depletion; D008221:Lymphoid Tissue / Q000276:immunology; D008297:Male; D010703:Phorbol Esters / Q000494:pharmacology; D016511:Severe Combined Immunodeficiency / Q000235:genetics*; D013601:T-Lymphocytes / Q000276:immunology* / Q000648:ultrastructure
chemical_list: D017252:CD3 Complex; D016827:CD8 Antigens; D015220:Calcium Channels; D010703:Phorbol Esters