Functional analysis of transmembrane activator and calcium-modulating cyclophilin ligand interactor (TACI) mutations associated with common variable immunodeficiency

J Allergy Clin Immunol. 2011 Jul;128(1):226-228.e1. doi: 10.1016/j.jaci.2011.01.048. Epub 2011 Mar 21.

Abstract

Some, but not all, TACI mutations found in CVID impair TACI function and may potentially contribute to B cell dysfunction in heterozygotes via haploinsufficiency.

Publication types

  • Letter

MeSH terms

  • Amino Acid Sequence
  • Cell Separation
  • Common Variable Immunodeficiency / genetics*
  • Common Variable Immunodeficiency / metabolism
  • Flow Cytometry
  • Humans
  • Molecular Sequence Data
  • Mutation
  • Signal Transduction / genetics*
  • Transfection
  • Transmembrane Activator and CAML Interactor Protein / chemistry
  • Transmembrane Activator and CAML Interactor Protein / genetics*
  • Transmembrane Activator and CAML Interactor Protein / metabolism*

Substances

  • TNFRSF13B protein, human
  • Transmembrane Activator and CAML Interactor Protein