A common single nucleotide polymorphism impairs B-cell activating factor receptor's multimerization, contributing to common variable immunodeficiency

J Allergy Clin Immunol. 2014 Apr;133(4):1222-5. doi: 10.1016/j.jaci.2013.11.021. Epub 2014 Jan 7.
No abstract available

Publication types

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

MeSH terms

  • B-Cell Activating Factor / metabolism
  • Common Variable Immunodeficiency / diagnosis
  • Common Variable Immunodeficiency / genetics*
  • Common Variable Immunodeficiency / metabolism
  • Genetic Predisposition to Disease*
  • Humans
  • Polymorphism, Single Nucleotide*
  • Protein Multimerization*
  • Receptors, Interleukin-4 / chemistry*
  • Receptors, Interleukin-4 / genetics*
  • Receptors, Interleukin-4 / metabolism

Substances

  • B-Cell Activating Factor
  • Receptors, Interleukin-4