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Over the last few years, several patients with defects in the HLA class I presentation pathway have been described. Analysis of their clinical symptoms and immunological parameters have led to the identification of several unexpected findings which are of importance to understand the role of HLA class I-dependent immune responses in host defense. Here, we will describe and compare clinical manifestations and immunological findings of patients with defects in the peptide transporter proteins (TAP complex), tapasin and CD8 molecules.

Original publication




Journal article


Semin Immunol

Publication Date





330 - 336


Animals, Antigen Presentation, CD8 Antigens, Histocompatibility Antigens Class I, Humans, Killer Cells, Natural, Membrane Transport Proteins, Mice, Mice, Knockout, T-Lymphocytes, Cytotoxic