Efficacy of JAK1/2 inhibitors in AGS genes-related interferonopathies: A multicenter retrospective observational study with treated vs untreated comparison.

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Title: Efficacy of JAK1/2 inhibitors in AGS genes-related interferonopathies: A multicenter retrospective observational study with treated vs untreated comparison.
Authors: Marinella G; Department of Developmental Neurosciences, IRCCS Foundation Stella Maris, Calambrone, Pisa, Italy; Department of Neuroscience, Psychology, Drug Research and Child Health NEUROFARBA, University of Florence, 50135 Florence, Italy., Vaia Y; Unit of Pediatric Neurology, C.O.A.L.A (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy; Neuroscience Research Center, Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy., Politano D; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy., Galli J; Unit of Child Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy., Nicita F; Unit of Muscular and Neurodegenerative Diseases, IRCCS Bambino Gesù Childrens' Hospital, Rome, Italy., Popple MM; Child Neuropsychiatry, IRCCS Istituto G.Gaslini, Genoa, Italy., Pichiecchio A; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy., Pasquariello R; Department of Developmental Neurosciences, IRCCS Foundation Stella Maris, Calambrone, Pisa, Italy., Parazzini C; Pediatric Radiology and Neuroradiology Department, V. Buzzi Children's Hospital, Milan, Italy., Pinelli L; Neuroradiology Unit, Pediatric Neuroradiology Section, ASST Spedali Civili of Brescia, Italy., Longo D; Functional and Interventional Neuroradiology Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Fazzi E; Unit of Child Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy., Orcesi S; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy., Tonduti D; Unit of Pediatric Neurology, C.O.A.L.A (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy; Neuroscience Research Center, Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy., Battini R; Department of Developmental Neurosciences, IRCCS Foundation Stella Maris, Calambrone, Pisa, Italy; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy. Electronic address: rbattini@fsm.unipi.it., Orsini A; Pediatric University Department, Azienda Ospedaliera Universitaria Pisana, University of Pisa, 56121 Pisa, Italy., Zunica F; Department of Pediatrics, Buzzi Children's Hospital, University of Milan, Milan, Italy., Arrigoni F; Unit of Pediatric Neurology, C.O.A.L.A (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy; Pediatric Radiology and Neuroradiology Department, V. Buzzi Children's Hospital, Milan, Italy., Nicolosi S; Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy., Insalaco A; Division of Rheumatology, ERN RITA Center, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Cattalini M; Pediatrics Clinic, University of Brescia and ASST Spedali Civili of Brescia, Brescia, Italy., Cordelli DM; Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy; UOC Neuropsychiatry of the Pediatric Age, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy., Soliani L; UOC Neuropsychiatry of the Pediatric Age, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy., Fetta A; Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy; UOC Neuropsychiatry of the Pediatric Age, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy., Operto FF; Department of Health Sciences, 'Magna Graecia' University, Catanzaro, Italy., Amadori E; Child Neuropsychiatry, IRCCS Istituto G.Gaslini, Genoa, Italy., Mancardi MM; Child Neuropsychiatry, IRCCS Istituto G.Gaslini, Genoa, Italy., Volpi S; Rheumatology and Autoinflammatory Diseases, IRCCS Istituto Giannina Gaslini, and Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) University of Genoa, Genova, Italy., Orsi SM; Rheumatology and Autoinflammatory Diseases, IRCCS Istituto Giannina Gaslini, and Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) University of Genoa, Genova, Italy.
Corporate Authors: AGS Study Group
Source: Molecular genetics and metabolism [Mol Genet Metab] 2026 Jun; Vol. 148 (2), pp. 109907. Date of Electronic Publication: 2026 Mar 19.
Publication Type: Journal Article; Multicenter Study; Observational Study
Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1096-7206
DOI:10.1016/j.ymgme.2026.109907