Structural modeling and functional characterization of a novel gain-of-function TLR8 variant causing severe inflammatory syndrome.

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Title: Structural modeling and functional characterization of a novel gain-of-function TLR8 variant causing severe inflammatory syndrome.
Authors: Skenteris NT; Research Department of Virus Immunology, Leibniz Institute of Virology, Hamburg, Germany., Luttermann E; Clinic for Rheumatology and Immunology, Auenlandklinik Bad Bramstedt, Bad Bramstedt, Germany., Nair S; Research Department of Integrative Virology, Leibniz Institute of Virology, Hamburg, Germany.; Centre for Structural Systems Biology, Hamburg, Germany., Evangelakos I; Institute of Human Genetics., Pujantell M; Research Department of Virus Immunology, Leibniz Institute of Virology, Hamburg, Germany.; Institute of Immunology., Eggers M; III. Department of Medicine, and.; Hamburg Center for Kidney Health, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Hausmann F; Research Department of Integrative Virology, Leibniz Institute of Virology, Hamburg, Germany.; Centre for Structural Systems Biology, Hamburg, Germany., Bérouti M; Gene Center and Department of Biochemistry, Ludwig Maximilian University of Munich, Munich, Germany., Padoan B; Research Department of Virus Immunology, Leibniz Institute of Virology, Hamburg, Germany., Flomm FJ; Research Department of Virus Immunology, Leibniz Institute of Virology, Hamburg, Germany., Claussen JM; Research Department of Virus Immunology, Leibniz Institute of Virology, Hamburg, Germany., Grünhagel B; Research Department of Virus Immunology, Leibniz Institute of Virology, Hamburg, Germany., Salfelder A; Zentrum für Humangenetik, Tübingen, Germany., Beifuss B; Zentrum für Humangenetik, Tübingen, Germany., Biskup S; Zentrum für Humangenetik, Tübingen, Germany.; Center for Genomics and Transcriptomics, Tübingen, Germany., Blümke P; Technology Platform Next Generation Sequencing, Leibniz Institute of Virology, Hamburg, Germany., Rading K; Institute of Human Genetics., Hildebrandt H; Research Department of Virus Immunology, Leibniz Institute of Virology, Hamburg, Germany., Matschl U; Research Department of Virus Immunology, Leibniz Institute of Virology, Hamburg, Germany., Giesemann-Jansen S; Research Department of Virus Immunology, Leibniz Institute of Virology, Hamburg, Germany., Hennesen J; Research Department of Virus Immunology, Leibniz Institute of Virology, Hamburg, Germany., Nikolaev VO; Institute of Experimental Cardiovascular Research., Kutsche M; Institute of Human Genetics., Kubisch C; Institute of Human Genetics., Koch-Nolte F; Institute of Immunology., Tomas NM; III. Department of Medicine, and.; Hamburg Center for Kidney Health, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Hamburg Center for Translational Immunology., Tolosa E; Institute of Immunology.; German Center for Child and Adolescent Health (DZKJ), partner site Hamburg; and., Lütgehetmann M; Institute of Medical Microbiology, Virology and Hygiene, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Stahl FR; Institute of Immunology., Hornung V; Gene Center and Department of Biochemistry, Ludwig Maximilian University of Munich, Munich, Germany.; German Center for Child and Adolescent Health (DZKJ), partner site Munich, Munich, Germany., Bunders MJ; Research Department of Virus Immunology, Leibniz Institute of Virology, Hamburg, Germany.; III. Department of Medicine, and.; Hamburg Center for Translational Immunology.; German Center for Child and Adolescent Health (DZKJ), partner site Hamburg; and., Schlein C; Institute of Human Genetics., Topf M; Research Department of Integrative Virology, Leibniz Institute of Virology, Hamburg, Germany.; Centre for Structural Systems Biology, Hamburg, Germany.; Institute for Molecular Virology and Tumorvirology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kötter I; Clinic for Rheumatology and Immunology, Auenlandklinik Bad Bramstedt, Bad Bramstedt, Germany.; III. Department of Medicine, and., Altfeld M; Research Department of Virus Immunology, Leibniz Institute of Virology, Hamburg, Germany.; Institute of Immunology.; German Center for Child and Adolescent Health (DZKJ), partner site Hamburg; Leibniz Institute of Virology, Hamburg, Germany.
Source: JCI insight [JCI Insight] 2026 Feb 23; Vol. 11 (4). Date of Electronic Publication: 2026 Feb 23 (Print Publication: 2026).
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: eCollection Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2379-3708
DOI:10.1172/jci.insight.187422