[The bare lymphocyte syndrome. Combined immune deficiency by absence of HLA antigen expression].
The typical form of the Bare Lymphocyte Syndrome type I consists of lack of expression of class I HLA antigens, resulting in combined immunodeficiency. The abnormality does not concern the structural genes of chromosome 6 but is located on other genes controlling expression of HLA antigens. This autosomal recessive condition is clinically manifested by infections, and the spontaneous outcome is generally fatal during childhood. Because the abnormality is detected on cells of hematopoietic origin only, complete cure should be attainable by bone marrow transplantation, provided it is performed early enough. The Bare Lymphocyte Syndrome type II consists of lack of expression of class II HLA antigens, associated with immunodeficiency, and the postulated type III consists of complete lack of any class I and II HLA antigen at cell surface. This syndrome demonstrates the major role of HLA antigens both in T lymphocytes effector functions and in T lymphocyte earlier differentiation and homing.
D005260:Female; D005808:Genes, Recessive; D006680:HLA Antigens / Q000235:genetics / Q000276:immunology*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D008214:Lymphocytes / Q000276:immunology*; D008297:Male; D010375:Pedigree; D013577:Syndrome
D006680:HLA Antigens
Le syndrome des lymphocytes dénudés. Déficit immunitaire combiné par absence d'expression des antigénes HLA.