Genetic basis of abnormal B cell development

ME Conley, MD Cooper - Current opinion in immunology, 1998 - Elsevier
Current opinion in immunology, 1998Elsevier
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 δ5/14.1 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'.
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 δ5/14.1 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’.
Elsevier