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

Department of Microbiology and Immunology, University of Maryland, Baltimore, Baltimore, Maryland, USA, svogel{at}som.umaryland.edu

Agnes A. Awomoyi

Department of Microbiology and Immunology, University of Maryland, Baltimore, Baltimore, Maryland, USA

Prasad Rallabhandi

Department of Microbiology and Immunology, University of Maryland, Baltimore, Baltimore, Maryland, USA

Andrei E. Medvedev

Department of Microbiology and Immunology, University of Maryland, Baltimore, Baltimore, Maryland, USA

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), and IB have been identified and profoundly affect the host response to infection.

Key Words: TLR • signaling • LPS • mutations

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