Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC class II deficiency.

Abstract excerpt

BACKGROUND: Major-histocompatibility-complex (MHC) class II deficiency is an autosomal recessive primary immunodeficiency disease in which MHC class II molecules are absent. It is a genetically heterogeneous disease of gene regulation resulting from defects in several transactivating genes that r...

Topics

• Cell Line
• DNA-Binding Proteins
• Gene Expression Regulation
• Genes, MHC Class II
• Histocompatibility Antigens Class II
• Humans
• Immunologic Deficiency Syndromes
• Mutation
• Nuclear Proteins
• Regulatory Factor X Transcription Factors
• Trans-Activators
• Transcription Factors
• Transfection