Mutations in TLR4 signaling that lead to increased susceptibility to infection in humans: an overview

J Endotoxin Res. 2005;11(6):333-9. doi: 10.1179/096805105X58724.


In this overview, we will present current information on known mutations in the TLR4 signaling pathway that have been associated with increased susceptibility to disease. To date, mutations in the extracellular domain of TLR4 itself, IRAK-4, NEMO (IKK gamma), and I kappa B alpha have been identified and profoundly affect the host response to infection.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Disease Susceptibility*
  • Humans
  • Infections / microbiology*
  • Models, Biological
  • Mutation*
  • Signal Transduction*
  • Toll-Like Receptor 4 / genetics*
  • Toll-Like Receptor 4 / metabolism*


  • Toll-Like Receptor 4