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Screening Bioactive Nanoparticles in Phagocytic Immune Cells for Inhibitors of Toll-like Receptor Signaling

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Biallelic TLR4 deficiency in humans.

Melania Capitani¹, Ahmad A Al-Shaibi², Sumeet Pandey¹

¹Translational Gastroenterology Unit, University of Oxford, Oxford, United Kingdom.

The Journal of Allergy and Clinical Immunology

|December 3, 2022

Summary

Complete Toll-like receptor 4 (TLR4) deficiency in humans results in an inborn error of immunity. This condition impairs responses to lipopolysaccharide (LPS) but leaves TLR2 responses and antimicrobial activity intact.

Keywords:

Inflammatory bowel disease primary immunodeficiency

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Area of Science:

Immunology
Genetics
Microbiology

Background:

Toll-like receptors (TLRs) are crucial for host defense and inflammatory responses.
TLR4 specifically recognizes lipopolysaccharide (LPS) from gram-negative bacteria and endogenous ligands like S100A8/S100A9 proteins.

Purpose of the Study:

To characterize the phenotype and cellular functions of individuals with complete TLR4 deficiency.
To investigate the genetic basis and functional consequences of absent TLR4 signaling.

Main Methods:

Genome and exome sequencing were employed to identify genetic variants.
Cellular responses were assessed in primary monocytes, macrophages, neutrophils, and cell lines.
Techniques included flow cytometry, reporter assays, and cytokine analysis.

Main Results:

Identified homozygous stop codon variants (p.Q188X, p.Y794X) in TLR4 in affected individuals.
These variants completely abolished LPS-induced cytokine responses but preserved TLR2 responses.
TLR4 deficiency led to a neutrophil CD62L shedding defect, while intracellular Salmonella antimicrobial activity remained functional.

Conclusions:

Biallelic TLR4 deficiency constitutes a human inborn error of immunity affecting LPS response.
This finding expands the spectrum of primary immunodeficiencies, particularly those affecting TLR and downstream signaling pathways (MYD88, IRAK4).