1. Toll-like receptor 3 (TLR3) variant and NLRP12 mutation confer susceptibility to a complex clinical presentation
- Author
-
Yaarit Ribak, Aya Khalaila, Adar Zinger, Amit Nahum, Oded Shamriz, Yuval Tal, Vardiella Meiner, Eli C. Lewis, Ronen Schuster, and Nofar Marcus
- Subjects
Adult ,0301 basic medicine ,viruses ,Immunology ,Acyclovir ,Disease ,Antibodies, Monoclonal, Humanized ,medicine.disease_cause ,Antiviral Agents ,03 medical and health sciences ,0302 clinical medicine ,Immune system ,Crohn Disease ,Gastrointestinal Agents ,medicine ,Esophagitis ,Humans ,Valganciclovir ,Immunology and Allergy ,Receptor ,Toll-like receptor ,Mutation ,Whole Genome Sequencing ,business.industry ,Intracellular Signaling Peptides and Proteins ,Herpes Simplex ,Inflammasome ,Toll-Like Receptor 3 ,030104 developmental biology ,Herpes simplex virus ,TLR3 ,Female ,business ,Signal Transduction ,030215 immunology ,medicine.drug - Abstract
Genetic aberrations in the toll-like receptor (TLR)3 pathway are associated with increased susceptibility to herpes simplex virus (HSV) infections. Leucine-rich repeat and PYD-containing protein (NLRP)12 is a component of the inflammasome apparatus, which is critical to an immediate innate inflammatory response. Aberrations in NLRP12 have been shown to mediate auto-inflammation. In this study, we present a 44-year old patient with severe HSV esophagitis and Crohn's disease. An immune and genetic investigation confirmed two coinciding genetic mutations in TLR3 and NLRP12. Our findings support conducting laboratory workup that targets TLR3 pathway in the immunocompetent host developing recurrent HSV infections.
- Published
- 2020