title: Mutations in TLR4 signaling that lead to increased susceptibility to infection in humans: an overview.
abstract: 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.
authors.affiliation: Department of Microbiology and Immunology, University of Maryland, Baltimore, Baltimore, MD 21201, USA. svogel@som.umaryland.edu
authors.forename: Stefanie N
authors.initials: SN
authors.lastname: Vogel
authors.forename: Agnes A
authors.initials: AA
authors.lastname: Awomoyi
authors.forename: Prasad
authors.initials: P
authors.lastname: Rallabhandi
authors.forename: Andrei E
authors.initials: AE
authors.lastname: Medvedev
mesh_terms: D004198:Disease Susceptibility; D006801:Humans; D007239:Infections / Q000382:microbiology*; D008954:Models, Biological; D009154:Mutation; D015398:Signal Transduction; D051197:Toll-Like Receptor 4 / Q000235:genetics* / Q000378:metabolism*
chemical_list: D051197:Toll-Like Receptor 4