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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
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  Data: Structural modeling and functional characterization of a novel gain-of-function TLR8 variant causing severe inflammatory syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Skenteris+NT%22">Skenteris NT</searchLink>; Research Department of Virus Immunology, Leibniz Institute of Virology, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Luttermann+E%22">Luttermann E</searchLink>; Clinic for Rheumatology and Immunology, Auenlandklinik Bad Bramstedt, Bad Bramstedt, Germany.<br /><searchLink fieldCode="AU" term="%22Nair+S%22">Nair S</searchLink>; Research Department of Integrative Virology, Leibniz Institute of Virology, Hamburg, Germany.; Centre for Structural Systems Biology, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Evangelakos+I%22">Evangelakos I</searchLink>; Institute of Human Genetics.<br /><searchLink fieldCode="AU" term="%22Pujantell+M%22">Pujantell M</searchLink>; Research Department of Virus Immunology, Leibniz Institute of Virology, Hamburg, Germany.; Institute of Immunology.<br /><searchLink fieldCode="AU" term="%22Eggers+M%22">Eggers M</searchLink>; III. Department of Medicine, and.; Hamburg Center for Kidney Health, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Hausmann+F%22">Hausmann F</searchLink>; Research Department of Integrative Virology, Leibniz Institute of Virology, Hamburg, Germany.; Centre for Structural Systems Biology, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Bérouti+M%22">Bérouti M</searchLink>; Gene Center and Department of Biochemistry, Ludwig Maximilian University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Padoan+B%22">Padoan B</searchLink>; Research Department of Virus Immunology, Leibniz Institute of Virology, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Flomm+FJ%22">Flomm FJ</searchLink>; Research Department of Virus Immunology, Leibniz Institute of Virology, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Claussen+JM%22">Claussen JM</searchLink>; Research Department of Virus Immunology, Leibniz Institute of Virology, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Grünhagel+B%22">Grünhagel B</searchLink>; Research Department of Virus Immunology, Leibniz Institute of Virology, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Salfelder+A%22">Salfelder A</searchLink>; Zentrum für Humangenetik, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Beifuss+B%22">Beifuss B</searchLink>; Zentrum für Humangenetik, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Biskup+S%22">Biskup S</searchLink>; Zentrum für Humangenetik, Tübingen, Germany.; Center for Genomics and Transcriptomics, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Blümke+P%22">Blümke P</searchLink>; Technology Platform Next Generation Sequencing, Leibniz Institute of Virology, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Rading+K%22">Rading K</searchLink>; Institute of Human Genetics.<br /><searchLink fieldCode="AU" term="%22Hildebrandt+H%22">Hildebrandt H</searchLink>; Research Department of Virus Immunology, Leibniz Institute of Virology, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Matschl+U%22">Matschl U</searchLink>; Research Department of Virus Immunology, Leibniz Institute of Virology, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Giesemann-Jansen+S%22">Giesemann-Jansen S</searchLink>; Research Department of Virus Immunology, Leibniz Institute of Virology, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Hennesen+J%22">Hennesen J</searchLink>; Research Department of Virus Immunology, Leibniz Institute of Virology, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Nikolaev+VO%22">Nikolaev VO</searchLink>; Institute of Experimental Cardiovascular Research.<br /><searchLink fieldCode="AU" term="%22Kutsche+M%22">Kutsche M</searchLink>; Institute of Human Genetics.<br /><searchLink fieldCode="AU" term="%22Kubisch+C%22">Kubisch C</searchLink>; Institute of Human Genetics.<br /><searchLink fieldCode="AU" term="%22Koch-Nolte+F%22">Koch-Nolte F</searchLink>; Institute of Immunology.<br /><searchLink fieldCode="AU" term="%22Tomas+NM%22">Tomas NM</searchLink>; III. Department of Medicine, and.; Hamburg Center for Kidney Health, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Hamburg Center for Translational Immunology.<br /><searchLink fieldCode="AU" term="%22Tolosa+E%22">Tolosa E</searchLink>; Institute of Immunology.; German Center for Child and Adolescent Health (DZKJ), partner site Hamburg; and.<br /><searchLink fieldCode="AU" term="%22Lütgehetmann+M%22">Lütgehetmann M</searchLink>; Institute of Medical Microbiology, Virology and Hygiene, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Stahl+FR%22">Stahl FR</searchLink>; Institute of Immunology.<br /><searchLink fieldCode="AU" term="%22Hornung+V%22">Hornung V</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Bunders+MJ%22">Bunders MJ</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Schlein+C%22">Schlein C</searchLink>; Institute of Human Genetics.<br /><searchLink fieldCode="AU" term="%22Topf+M%22">Topf M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Kötter+I%22">Kötter I</searchLink>; Clinic for Rheumatology and Immunology, Auenlandklinik Bad Bramstedt, Bad Bramstedt, Germany.; III. Department of Medicine, and.<br /><searchLink fieldCode="AU" term="%22Altfeld+M%22">Altfeld M</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%22101676073%22">JCI insight</searchLink> [JCI Insight] 2026 Feb 23; Vol. 11 (4). <i>Date of Electronic Publication: </i>2026 Feb 23 (<i>Print Publication: </i>2026).
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