Ig beta deficiency in humans

Curr Opin Allergy Clin Immunol. 2008 Dec;8(6):515-9. doi: 10.1097/ACI.0b013e328314b621.


Purpose of review: To describe novel immunological and molecular findings regarding early B cell development arrest resulting in autosomal recessive agammaglobulinemia.

Recent findings: Recently two different groups identified mutations in Ig beta, a component of the pre-B cell receptor, responsible for agammaglobulinemia in humans. These are the first two patients ever described with mutations in Ig beta.

Summary: These novel findings broaden the spectrum of genetic defects underlying this rare condition. This novel cause of agammaglobulinemia not only sheds light into early B cell development in humans but also sets the basis for potential alternative therapeutic approaches such as gene therapy.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Agammaglobulinemia / genetics*
  • Agammaglobulinemia / pathology*
  • Agammaglobulinemia / therapy
  • Animals
  • B-Lymphocyte Subsets / metabolism*
  • B-Lymphocyte Subsets / pathology
  • B-Lymphocytes / metabolism*
  • B-Lymphocytes / pathology
  • CD79 Antigens / deficiency*
  • CD79 Antigens / genetics
  • CD79 Antigens / immunology
  • DNA Mutational Analysis
  • Genes, Recessive / immunology
  • Genetic Therapy / trends
  • Humans
  • Mice
  • Mice, Knockout
  • Mutation


  • CD79 Antigens