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 molecular dissection of this rare disease has contributed considerably to our current understanding of the molecular...
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