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DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling.

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Title: DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling.
Authors: Tusseau M; The International Center of Research in Infectiology, Lyon University, INSERM U1111, CNRS UMR 5308, ENS, UCBL, Lyon, France.; Genetics Department, Lyon University Hospital, Lyon, France., Lovšin E; University Children's Hospital University Medical Center Ljubljana, Ljubljana, Slovenia., Samaille C; Nephrologie Pediatrique, Hôpital Jeanne de Flandre, CHU Lille, Lille, France., Pescarmona R; The International Center of Research in Infectiology, Lyon University, INSERM U1111, CNRS UMR 5308, ENS, UCBL, Lyon, France.; Immunology Laboratory, Hospices Civils de Lyon, Lyon Sud Hospital, Pierre Benite, France., Mathieu AL; The International Center of Research in Infectiology, Lyon University, INSERM U1111, CNRS UMR 5308, ENS, UCBL, Lyon, France., Maggio MC; University Department PROMISE 'G. D'Alessandro', University of Palermo, Palermo, Italy., Selmanović V; Children's Hospital, University Clinical Center , Sarajevo, Bosnia and Herzegovina., Debeljak M; University Children's Hospital University Medical Center Ljubljana, Ljubljana, Slovenia., Dachy A; Nephrologie Pediatrique, Hôpital Jeanne de Flandre, CHU Lille, Lille, France., Novljan G; Pediatric Nephrology Department, Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia., Janin A; Cardiogenetics Laboratory, Biochemistry and Molecular Biology Department, Lyon University Hospital, Lyon, France.; NeuroMyoGene Institute, Lyon 1 University, CNRS UMR 5510, INSERM U1217, Lyon, France., Januel L; NeuroMyoGene Institute, Lyon 1 University, CNRS UMR 5510, INSERM U1217, Lyon, France., Gibier JB; University Lille, UMR9020-U1277 - CANTHER - Cancer Heterogeneity Plasticity and Resistance to Therapies, 59000, Lille, France., Chopin E; Centre de Biotechnologie Cellulaire Et Biothèque, Hospices Civils de Lyon, Bron, France., Rouvet I; Centre de Biotechnologie Cellulaire Et Biothèque, Hospices Civils de Lyon, Bron, France., Goncalves D; Immunology Laboratory, Hospices Civils de Lyon, Lyon Sud Hospital, Pierre Benite, France., Fabien N; Immunology Laboratory, Hospices Civils de Lyon, Lyon Sud Hospital, Pierre Benite, France., Rice GI; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK., Lesca G; Genetics Department, Lyon University Hospital, Lyon, France., Labalme A; Genetics Department, Lyon University Hospital, Lyon, France., Romagnani P; Nephrology Unit, Anna Meyer Children Hospital and University of Florence, University of Florence, Florence, Italy., Walzer T; The International Center of Research in Infectiology, Lyon University, INSERM U1111, CNRS UMR 5308, ENS, UCBL, Lyon, France., Viel S; The International Center of Research in Infectiology, Lyon University, INSERM U1111, CNRS UMR 5308, ENS, UCBL, Lyon, France.; Immunology Laboratory, Hospices Civils de Lyon, Lyon Sud Hospital, Pierre Benite, France., Perret M; The International Center of Research in Infectiology, Lyon University, INSERM U1111, CNRS UMR 5308, ENS, UCBL, Lyon, France.; Immunology Laboratory, Hospices Civils de Lyon, Lyon Sud Hospital, Pierre Benite, France., Crow YJ; Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Université de Paris, Paris, France.; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Avčin T; University Children's Hospital University Medical Center Ljubljana, Ljubljana, Slovenia., Cimaz R; ASST G. Pini, Milan, Italy.; Department of Clinical Sciences and Community Health, University of Milano, Milan, Italy., Belot A; The International Center of Research in Infectiology, Lyon University, INSERM U1111, CNRS UMR 5308, ENS, UCBL, Lyon, France. alexandre.belot@chu-lyon.fr.; National Referee Centre for Rheumatic and Autoimmune Diseases in Children, RAISE, Paris and Lyon, France. alexandre.belot@chu-lyon.fr.; Pediatric Nephrology, Rheumatology, Dermatology Department, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, 59 Bd Pinel, 68677, Bron Cedex, France. alexandre.belot@chu-lyon.fr.
Source: Journal of clinical immunology [J Clin Immunol] 2022 Aug; Vol. 42 (6), pp. 1310-1320. Date of Electronic Publication: 2022 Jun 07.
Publication Type: Journal Article; Systematic Review; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1573-2592
DOI:10.1007/s10875-022-01287-5