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Novel TLR7 gain-of-function variant and review of the associated disease spectrum.

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Title: Novel TLR7 gain-of-function variant and review of the associated disease spectrum.
Authors: Tusseau M; Inserm U1111, CNRS, UMR5308, ENS of Lyon, International Center of Infectiology Research, Claude Bernard University Lyon 1, Lyon, France.; Department of Medical Genetics, Hospices Civils de Lyon, University Hospital of Lyon, Lyon, France.; GCS AURAGEN, Lyon, France., Desvignes C; Pediatric Nephrology, Rheumatology, Dermatology Department, National Reference Centre on Rheumatic, Autoimmune Diseases in Children and Type I Interferonopathies, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, University Hospital of Lyon, Lyon, France., Boursier G; GCS AURAGEN, Lyon, France.; Department of Molecular Genetics and Cytogenomics, CHU Montpellier, IRMB U1183, University of Montpellier, Montpellier, France.; National Reference Centre for Autoinflammatory Diseases and Amyloidosis, Montpellier, France., Fort C; Pediatric Neurology, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, University Hospital of Lyon, Lyon, France., David C; Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, Inserm UMR1163, Université Paris Cité, Paris, France.; Department of Internal Medicine, Hôpital Bichat-Claude Bernard, Assistance Publique Hôpitaux de Paris, Université Paris Cité, Paris, France., Frémond ML; Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, Inserm UMR1163, Université Paris Cité, Paris, France.; Pediatric Immunohematology & Rheumatology Unit, National Reference Centre on Rheumatic, Autoimmune Diseases in Children and Type I Interferonopathies, Necker Hospital, Paris, France., Benezech S; Department of Medical Genetics, Hospices Civils de Lyon, University Hospital of Lyon, Lyon, France.; Pediatric Immunohematology and Oncology Institute, Hospices Civils de Lyon/Centre Léon Bérard, Lyon, France., Khaldi-Plassart S; Inserm U1111, CNRS, UMR5308, ENS of Lyon, International Center of Infectiology Research, Claude Bernard University Lyon 1, Lyon, France.; Pediatric Nephrology, Rheumatology, Dermatology Department, National Reference Centre on Rheumatic, Autoimmune Diseases in Children and Type I Interferonopathies, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, University Hospital of Lyon, Lyon, France., Chenel A; Inserm U1111, CNRS, UMR5308, ENS of Lyon, International Center of Infectiology Research, Claude Bernard University Lyon 1, Lyon, France., Cognard J; Inserm U1111, CNRS, UMR5308, ENS of Lyon, International Center of Infectiology Research, Claude Bernard University Lyon 1, Lyon, France.; Pediatric Nephrology, Rheumatology, Dermatology Department, National Reference Centre on Rheumatic, Autoimmune Diseases in Children and Type I Interferonopathies, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, University Hospital of Lyon, Lyon, France., Khoryati L; Inserm U1111, CNRS, UMR5308, ENS of Lyon, International Center of Infectiology Research, Claude Bernard University Lyon 1, Lyon, France., Sormani J; Inserm U1111, CNRS, UMR5308, ENS of Lyon, International Center of Infectiology Research, Claude Bernard University Lyon 1, Lyon, France., Dijoud F; Pathology Department, Hospices Civils de Lyon, University Hospital of Lyon, Lyon, France., Goncalves D; Pathology Department, Hospices Civils de Lyon, University Hospital of Lyon, Lyon, France., Nombel A; Inserm U1111, CNRS, UMR5308, ENS of Lyon, International Center of Infectiology Research, Claude Bernard University Lyon 1, Lyon, France.; Immunology Department, Hospices Civils de Lyon, University Hospital of Lyon, Lyon, France., Jouret M; Pediatric Nephrology, Rheumatology, Dermatology Department, National Reference Centre on Rheumatic, Autoimmune Diseases in Children and Type I Interferonopathies, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, University Hospital of Lyon, Lyon, France., Mathieu AL; Inserm U1111, CNRS, UMR5308, ENS of Lyon, International Center of Infectiology Research, Claude Bernard University Lyon 1, Lyon, France., Belot A; Inserm U1111, CNRS, UMR5308, ENS of Lyon, International Center of Infectiology Research, Claude Bernard University Lyon 1, Lyon, France.; Pediatric Nephrology, Rheumatology, Dermatology Department, National Reference Centre on Rheumatic, Autoimmune Diseases in Children and Type I Interferonopathies, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, University Hospital of Lyon, Lyon, France.
Source: Journal of human immunity [J Hum Immun] 2026 Jan 12; Vol. 2 (2), pp. e20250199. Date of Electronic Publication: 2026 Jan 12 (Print Publication: 2026).
Publication Type: Journal Article
Journal Info: Publisher: Rockefeller University Press Country of Publication: United States NLM ID: 9919054337406676 Publication Model: eCollection Cited Medium: Internet ISSN: 3065-8993 (Electronic) Linking ISSN: 30658993 NLM ISO Abbreviation: J Hum Immun Subsets: PubMed not MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Tusseau+M%22">Tusseau M</searchLink>; Inserm U1111, CNRS, UMR5308, ENS of Lyon, International Center of Infectiology Research, Claude Bernard University Lyon 1, Lyon, France.; Department of Medical Genetics, Hospices Civils de Lyon, University Hospital of Lyon, Lyon, France.; GCS AURAGEN, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Desvignes+C%22">Desvignes C</searchLink>; Pediatric Nephrology, Rheumatology, Dermatology Department, National Reference Centre on Rheumatic, Autoimmune Diseases in Children and Type I Interferonopathies, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, University Hospital of Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Boursier+G%22">Boursier G</searchLink>; GCS AURAGEN, Lyon, France.; Department of Molecular Genetics and Cytogenomics, CHU Montpellier, IRMB U1183, University of Montpellier, Montpellier, France.; National Reference Centre for Autoinflammatory Diseases and Amyloidosis, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Fort+C%22">Fort C</searchLink>; Pediatric Neurology, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, University Hospital of Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22David+C%22">David C</searchLink>; Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, Inserm UMR1163, Université Paris Cité, Paris, France.; Department of Internal Medicine, Hôpital Bichat-Claude Bernard, Assistance Publique Hôpitaux de Paris, Université Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Frémond+ML%22">Frémond ML</searchLink>; Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, Inserm UMR1163, Université Paris Cité, Paris, France.; Pediatric Immunohematology & Rheumatology Unit, National Reference Centre on Rheumatic, Autoimmune Diseases in Children and Type I Interferonopathies, Necker Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Benezech+S%22">Benezech S</searchLink>; Department of Medical Genetics, Hospices Civils de Lyon, University Hospital of Lyon, Lyon, France.; Pediatric Immunohematology and Oncology Institute, Hospices Civils de Lyon/Centre Léon Bérard, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Khaldi-Plassart+S%22">Khaldi-Plassart S</searchLink>; Inserm U1111, CNRS, UMR5308, ENS of Lyon, International Center of Infectiology Research, Claude Bernard University Lyon 1, Lyon, France.; Pediatric Nephrology, Rheumatology, Dermatology Department, National Reference Centre on Rheumatic, Autoimmune Diseases in Children and Type I Interferonopathies, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, University Hospital of Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Chenel+A%22">Chenel A</searchLink>; Inserm U1111, CNRS, UMR5308, ENS of Lyon, International Center of Infectiology Research, Claude Bernard University Lyon 1, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Cognard+J%22">Cognard J</searchLink>; Inserm U1111, CNRS, UMR5308, ENS of Lyon, International Center of Infectiology Research, Claude Bernard University Lyon 1, Lyon, France.; Pediatric Nephrology, Rheumatology, Dermatology Department, National Reference Centre on Rheumatic, Autoimmune Diseases in Children and Type I Interferonopathies, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, University Hospital of Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Khoryati+L%22">Khoryati L</searchLink>; Inserm U1111, CNRS, UMR5308, ENS of Lyon, International Center of Infectiology Research, Claude Bernard University Lyon 1, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Sormani+J%22">Sormani J</searchLink>; Inserm U1111, CNRS, UMR5308, ENS of Lyon, International Center of Infectiology Research, Claude Bernard University Lyon 1, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Dijoud+F%22">Dijoud F</searchLink>; Pathology Department, Hospices Civils de Lyon, University Hospital of Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Goncalves+D%22">Goncalves D</searchLink>; Pathology Department, Hospices Civils de Lyon, University Hospital of Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Nombel+A%22">Nombel A</searchLink>; Inserm U1111, CNRS, UMR5308, ENS of Lyon, International Center of Infectiology Research, Claude Bernard University Lyon 1, Lyon, France.; Immunology Department, Hospices Civils de Lyon, University Hospital of Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Jouret+M%22">Jouret M</searchLink>; Pediatric Nephrology, Rheumatology, Dermatology Department, National Reference Centre on Rheumatic, Autoimmune Diseases in Children and Type I Interferonopathies, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, University Hospital of Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Mathieu+AL%22">Mathieu AL</searchLink>; Inserm U1111, CNRS, UMR5308, ENS of Lyon, International Center of Infectiology Research, Claude Bernard University Lyon 1, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Belot+A%22">Belot A</searchLink>; Inserm U1111, CNRS, UMR5308, ENS of Lyon, International Center of Infectiology Research, Claude Bernard University Lyon 1, Lyon, France.; Pediatric Nephrology, Rheumatology, Dermatology Department, National Reference Centre on Rheumatic, Autoimmune Diseases in Children and Type I Interferonopathies, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, University Hospital of Lyon, Lyon, France.
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