title: The bare-lymphocyte syndrome: report on the registry.
abstract: The bare-lymphocyte syndrome is characterised by a combined immunodeficiency associated with the lack of expression of HLA A, B, and C antigens and the absence of beta 2 microglobulin on lymphocytes. Other antigens are present on the surface of lymphocytes. Nine case-reports have been collected by an international registry. Studies on these patients confirm the role of HLA molecules in the development of functional T lymphocytes.
mesh_terms: D001609:Beta-Globulins / Q000172:deficiency*; D002454:Cell Differentiation; D005260:Female; D006680:HLA Antigens / Q000235:genetics / Q000276:immunology*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics / Q000276:immunology*; D008214:Lymphocytes / Q000276:immunology*; D008285:Major Histocompatibility Complex; D008297:Male; D010375:Pedigree; D009626:Terminology as Topic; D001613:beta 2-Microglobulin / Q000172:deficiency*
chemical_list: D001609:Beta-Globulins; D006680:HLA Antigens; D001613:beta 2-Microglobulin