Mutational analysis of human BLyS in patients with common variable immunodeficiency

J Clin Immunol. 2006 Jul;26(4):396-9. doi: 10.1007/s10875-006-9026-2. Epub 2006 Jun 1.

Abstract

BLyS, a TNF family member, is crucial for B cell proliferation and differentiation by acting through its three receptors, TACI, BCMA and BAFF-R. The knock out model for BLyS is characterized by an immunological phenotype reminiscent of the human phenotype of common variable immunodeficiency (CVID). CVID is characterized by a defective B cell compartment, evidencing the putative importance of BLyS in its pathogenesis. On the contrary, the transgenic model for BLys is characterized by autoimmune manifestations, underlying its role in B cell regulation. In fact, mutations in TACI, one of the three BLyS receptors, are associated with CVID. Based on these facts, we hypothesized that BLyS could be a candidate gene for CVID. We screened 78 patients with CVID using DHPLC and direct sequencing: No disease causing mutations were identified. A novel heterozygous single nucleotide polymorphism (SNP) was found in exon 1 of one individual, however this SNP (G189A) does not lead to an amino acid substitution.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • B-Cell Activating Factor
  • Child
  • Child, Preschool
  • Common Variable Immunodeficiency / genetics*
  • DNA Mutational Analysis
  • DNA Primers
  • Humans
  • Infant
  • Membrane Proteins / genetics*
  • Middle Aged
  • Mutation*
  • Polymorphism, Single Nucleotide
  • Sequence Analysis, DNA / methods
  • Tumor Necrosis Factor-alpha / genetics*

Substances

  • B-Cell Activating Factor
  • DNA Primers
  • Membrane Proteins
  • TNFSF13B protein, human
  • Tumor Necrosis Factor-alpha