Article
Two novel mutations in the MHC class II transactivator CIITA in a second patient from MHC class II deficiency complementation group A.
Human genetics - 1 Apr 1997
Bontron S, Steimle V, Ucla C, Eibl M M, Mach B
Abstract excerpt
Congenital MHC class II deficiency or bare lymphocyte syndrome (BLS; McKusick 209920) is caused by defects in trans-acting regulatory factors that control MHC class II expression and is therefore a disease of gene regulation. There are at least four complementation groups and the genetic and mole...
Topics
- Alleles
- Alternative Splicing
- Cell Line
- Chromosome Mapping
- DNA, Complementary
- Gene Deletion
- Genes, MHC Class II
- Genetic Complementation Test
- Heterozygote
- Humans
- Mutation
- Nuclear Proteins