Article
Defective MHC class II expression in an MHC class II deficiency patient is caused by a novel deletion of a splice donor site in the MHC class II transactivator gene.
Immunogenetics - 1 Jan 2000
Peijnenburg A, Van den Berg R, Van Eggermond M J, Sanal O, Vossen J M, Lennon A M, Alcaïde-Loridan C, Van den Elsen P J
Abstract excerpt
MHC class II deficiency patients are mutated for transcription factors that regulate the expression of major histocompatibility complex (MHC) class II genes. Four complementation groups (A-D) are defined and the gene defective in group A has been shown to encode the MHC class II transactivator (CIITA). Here, we report the molecular characterization of a new MHC class II deficiency patient, ATU. Cell fusion...
Topics
- Antigens, Differentiation, B-Lymphocyte
- Base Sequence
- Cell Fusion
- Cell Line, Transformed
- Exons
- Fibroblasts
- Gene Expression
- Genes, MHC Class I
- Genes, MHC Class II
- Genetic Complementation Test
- Histocompatibility Antigens Class II
- Homozygote