Genes required for B cell development

Abstract

Mutations in a variety of genes can cause congenital agammaglobulinemia\rand a failure of B cell development. The currently known genes\rencode components of the pre–B cell receptor or proteins that are activated\rby cross-linking of the pre–B cell receptor. Defects in these genes\rresult in a block in B cell differentiation at the pro–B to pre–B cell transition.\rA patient with a translocation involving a previously unknown\rgene, LRRC8, demonstrated a block at exactly the same point in B cell\rdifferentiation (see the related article beginning on page 1707). It will\rbe interesting to determine whether the protein encoded by this gene\rinteracts with the pre–B cell receptor signal transduction pathway or\ris involved in a new pathway.