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Type III bare lymphocyte syndrome (BLS) is a severe combined immunodeficiency disease caused by the absence of MHC Class II expression associated with low expression of class I molecules. Here, we report a case with type III BLS who lacked RFXAP (Regulatory factor X-associated protein) expression as a result from a novel mutation introducing a premature stopcodon in DE-region at amino acid 73.

In this study T-cell receptor (TcR) beta-chain gene rearrangements of T-cell lines prepared from multiple sites (n = 92) of synovial tissue derived from both knees of a patient with rheumatoid arthritis were analysed. In the majority of T-cell lines, dominant TcR beta-chain gene rearrangements were detected, involving C beta 1 as well as C beta 2. The dominant rearrangement patterns of T-cell lines from different tissue fragments showed significant variability, but some of the DNA restriction fragments were shared by T-cell lines from multiple sites in both knees. The latter observation suggests that identical T-cell clones may be present at different sites in the synovial tissue and in different joints. However, since many T-cell lines yielded different rearrangement patterns, these data also indicate considerable heterogeneity of T cells in the joints. Apart from theoretical implications, this TcR heterogeneity of T cells within an individual patient also has practical consequences for studies on synovial T cells obtained by biopsy.

Jeg-3 choriocarcinoma cells express class-I MHC HLA-G and low levels of a novel HLA-C product. The functional significance of such novel MHC class-I expression in regard of the cellular immune response has been investigated. Jeg-3 cells are NK-insensitive, but susceptible to LAK cytotoxicity, some of which is mediated by T cells. No Jeg-3-specific CTL or proliferative responses could be generated in allogeneic responder PBMC from several different donors. There was no detectable xenogeneic recognition of Jeg-3 cells even when preceded by in vivo priming. Jeg-3 cells are able to suppress proliferative responses in humans and others species. This is not reproduced by conditioned medium from the Jeg-3 cells, but can be overridden by IL-2. The ability of the Jeg-3 choriocarcinoma (trophoblast) cells to suppress in the MLR may reflect the processes which are shared to enable the survival of the foetus in a semi-allogeneic mother or a tumour in its host. It is not clear whether there is any relationship between the unusual class-I-MHC expression by trophoblast and the putative regulatory properties of the latter.

During intrathymic differentiation, the genes coding for the T cell receptor/CD3 (TCR/CD3) complex are expressed in stages resulting in surface expression of competent receptors on the most mature T cells. The CD3-delta, gamma and epsilon proteins, which are expressed intracellularly in the earliest detectable cells of T lineage, form the core of the TCR/CD3 complex. In the present investigation aimed at understanding the tissue specific expression of the murine CD3-delta gene, a T cell specific DNase I hypersensitive site was found 0.6 kb downstream of the polyadenylation site of the gene. A 0.4 kb genomic fragment encompassing this hypersensitive site exhibited properties of a strictly T cell-specific transcriptional enhancer which acts in a position- and orientation-independent manner. However, the activity of the promoter region was not found to be T cell restricted. Within this novel T cell-specific enhancer region, sequence motifs were found which are shared with the promoters of both the mouse and human CD3-delta genes; in this region we also found sequence homologies to the enhancer core element of the thymotropic viruses SL3 and RadLV. These findings suggest that regulatory elements 3' of the CD3-delta gene are at least in part responsible for its exclusive expression in thymus-derived lymphocytes.