[Molecular basis of HLA class-I deficiency and bare lymphocyte syndrome (BLS)]

Molecules of human leukocyte HLA class I antigens play a crucial role in the presentation of endogenic peptides, allowing effector cells of the immune system to control the immune homeostasis of the host. There are rare immunodeficiencies which result in impaired HLA antigen expression on cell membranes and which are called bare lymphocyte syndrome (BLS). These diseases allow us to gain insight into the roles of antigen-processing pathways in HLA class I expression and into the genetic disorders of transcription factors crucial to the expression of HLA class II molecules. Moreover, the clinical pictures of BLS patients provide us with a rare opportunity to study the host's immune responses when one of the most important immune mechanisms is impaired. In this study we present disorders of endogenic antigen-presentation pathways and point out pathways which, at least in part, allow the host to overcome these defects. We also present hypotheses that may explain the clinical findings in BLS patients.