Genetic basis of abnormal B cell development
- PMID: 9722915
- DOI: 10.1016/s0952-7915(98)80112-x
Genetic basis of abnormal B cell development
Abstract
A susceptibility gene in the MHC class III region may underlie the defective B-cell differentiation in familial IgA deficiency and common variable immunodeficiency. Mutations in Bruton's tyrosine kinase, immunoglobulin heavy chain and lambda 5/14.1 surrogate light chain loci disrupt B-cell development to cause profound antibody deficiency. Mutational, biochemical and transgenic studies offer insight into the function of these and other 'antibody deficiency genes'.
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