Article
Discoordinate expression of invariant chain and MHC class II genes in class II transactivator-transfected fibroblasts defective for RFX5.
Journal of immunology (Baltimore, Md. : 1950) - 15 Jul 1999
Peijnenburg A, Van Eggermond M J, Gobin S J, Van den Berg R, Godthelp B C, Vossen J M, Van den Elsen P J
Abstract excerpt
MHC class II deficiency or bare lymphocyte syndrome is a severe combined immunodeficiency caused by defects in MHC-specific transcription factors. In the present study, we show that fibroblasts derived from a recently identified bare lymphocyte syndrome patient, SSI, were mutated for RFX5, one of the DNA-binding components of the RFX complex. Despite the lack of functional RFX5 and resulting MHC class...
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