TAP deficiency syndrome

摘要: Bare lymphocyte syndrome (BLS) is characterized by a severe down-regulation of HLA class I and/or II molecules. In type 1 BLS the defect confined to molecules, while in 2 molecules are down-regulated [1]. Characterization 22 patients with over last years has revealed existence several clinically and immunologically distinct disease subsets [1–20]. this review we will focus on recently group phenotype due defective TAP complex, peptide transporter complex associated antigen presentation [2–15]. We describe clinical manifestations immunological findings suffering from deficiency syndrome, discuss differential diagnosis therapeutic options.