Combined immunodeficiency with abnormal expression of MHC class II genes

Inhibitor (IK) of IFN-γ induced HLA class II antigens expression also inhibits HLA class II constitutive expression in the human Raji B cell line

“…Type II bare lymphocyte syndromes (BLS II) are characterised by a lack of constitutive MHC class II expression on B lymphocytes resulting in a severe hereditary immunode®ciency (de Preval et al, 1988;Griscelli et al, 1989;Touraine et al, 1985;Mach et al, 1994). Considering the restoration of HLA-DR membrane expression after cell fusion experiments, four genetic complementation groups (A, B, C and D) were de®ned (Be nichou and Strominger, 1991).…”

A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome).

“…It is attributable to defects in regulatory factors that are essential for both constitutive and IFN-~-inducible expression of MHC class II genes (De Pr6val et al 1985Griscelli et al 1993;. BLS patients have been classified into three different complementation groups corresponding to three distinct MHC class II gene trans-activating factors Benichou and Strominger 1991;Seidl et al 1992;Lisowska-Grospierre et al 1994).…”

“…essential role of these molecules in the presentation of exogenous antigens to CD4 helper T lymphocytes, and thus in the control of the immune response, the lack of MHC class II expression in BLS patients results in severe immunodeficiency (for review, see Griscelli et al 1993;. The genetic defects responsible for this lack in expression reside in genes encoding transacting regulatory factors that are essential for MHC class II gene transcription (De Pr6val et al 1985).…”

“…Major histocompatibility complex (MHC) class II gene regulation represents one of the rare systems in which such a genetic approach exists. It relies on the existence of a form of primary immunodeficiency, called MHC class II deficiency or the bare lymphocyte syndrome (BLS), that has been shown to result from defects in the regulation of MHC class II genes {for review, see Griscelli et al 1993;). Cell lines derived from patients afflicted with this disease of gene regulation have provided a unique genetic model system for the identification of genes and factors that control MHC class II gene expression.…”

Repression of MHC class II gene transcription in trophoblast cells by novel single-stranded DNA binding proteins

“…These results suggest that although IAαNRE can downregulate a heterologous promoter, the effect is relatively minor. (dePravel et al, 1985;Griscelli et al, 1989). The B cells of patients in one complementation group of BLS lack RFX, a transactivating factor that binds to the X box of all class II promoters, and is required for class II expression (Reith et al, 1988(Reith et al, , 1989.…”