Genetic basis of abnormal B cell development

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 Brutonʹs 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’.