Genetic basis of abnormal B cell development

Curr Opin Immunol. 1998 Aug;10(4):399-406. doi: 10.1016/s0952-7915(98)80112-x.

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'.

Publication types

  • Review

MeSH terms

  • Agammaglobulinaemia Tyrosine Kinase
  • Agammaglobulinemia / genetics
  • Animals
  • B-Lymphocytes / cytology*
  • Cell Differentiation
  • Common Variable Immunodeficiency / genetics*
  • Humans
  • IgA Deficiency / genetics*
  • Immunoglobulin Heavy Chains / genetics
  • Immunoglobulin Light Chains
  • Immunoglobulin Light Chains, Surrogate
  • Immunoglobulin mu-Chains / genetics
  • Membrane Glycoproteins / genetics
  • Mice
  • Protein-Tyrosine Kinases / genetics
  • Protein-Tyrosine Kinases / metabolism
  • X Chromosome

Substances

  • Immunoglobulin Heavy Chains
  • Immunoglobulin Light Chains
  • Immunoglobulin Light Chains, Surrogate
  • Immunoglobulin mu-Chains
  • Membrane Glycoproteins
  • Protein-Tyrosine Kinases
  • Agammaglobulinaemia Tyrosine Kinase
  • Btk protein, mouse