title: Genes required for B cell development.
abstract: Mutations in a variety of genes can cause congenital agammaglobulinemia and a failure of B cell development. The currently known genes encode components of the pre-B cell receptor or proteins that are activated by cross-linking of the pre-B cell receptor. Defects in these genes result in a block in B cell differentiation at the pro-B to pre-B cell transition. A patient with a translocation involving a previously unknown gene, LRRC8, demonstrated a block at exactly the same point in B cell differentiation (see the related article beginning on page 1707). It will be interesting to determine whether the protein encoded by this gene interacts with the pre-B cell receptor signal transduction pathway or is involved in a new pathway.
authors.affiliation: Department of Immunology, St. Judes Children's Research Hospital, Memphis, Tennessee 38105, USA. maryellen.conely@stjude.org
authors.forename: Mary Ellen
authors.initials: ME
authors.lastname: Conley
mesh_terms: D000361:Agammaglobulinemia / Q000235:genetics*; D001402:B-Lymphocytes / Q000502:physiology*; D002454:Cell Differentiation; D006410:Hematopoiesis; D006412:Hematopoietic Stem Cells / Q000502:physiology*; D006801:Humans; D000090263:Leucine-Rich Repeat Proteins; D008562:Membrane Glycoproteins / Q000502:physiology; D009154:Mutation; D054420:Pre-B Cell Receptors; D011506:Proteins / Q000235:genetics*; D011947:Receptors, Antigen, B-Cell; D015398:Signal Transduction
chemical_list: D000090263:Leucine-Rich Repeat Proteins; D008562:Membrane Glycoproteins; D054420:Pre-B Cell Receptors; D011506:Proteins; D011947:Receptors, Antigen, B-Cell