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Keywords:

  • HLA-E;
  • TAP1;
  • Cell surface expression;
  • HLA class I deficiency;
  • bare lymphocyte syndrome

It was recently revealed from studies on TAP-deficient cell lines that HLA-E molecules are associated with nonamer peptides derived from certain HLA class I leader sequences and are expressed on the cell surface in a TAP-dependent manner. We have previously reported a homozygous TAP1 gene mutation in a HLA class I-deficient patient. In the present report, we demonstrate HLA-E molecule expression on the surface of the peripheral blood mononuclear cells (PBMC) of the TAP1-deficient patient. The HLA-E expression level on the monocytes of the patient was as high as that in healthy donors, whereas the HLA-E expression level on the lymphocytes of the patient was slightly lower. On the other hand, HLA-E expression was not detected on KMW-B2 cells, an Epstein-Barr virus (EBV)-transformed B-cell line derived from the lymphocytes of the TAP1-deficient patient. These data suggest the existence of TAP-dependent and -independent pathways for the surface expression of HLA-E molecules.