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Pediatric Research|June 11, 2026
Type I interferon signature does not correlate with disease activity in Blau syndromeBenjamin Fournier, Héloïse Reumaux, Isabelle Melki, et al.Journal of Clinical Immunology|February 8, 2023
Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2Gaofeng Zhu, Mihaly Badonyi, Lina Franklin, et al.Clinical Genetics|February 8, 2022
Systemic inflammatory syndrome in children with FARSA deficiencyFabienne Charbit-Henrion, Roman Goguyer-Deschaumes, Keren Borensztajn, et al.Journal of Clinical Immunology|August 28, 2024
Hereditary C1q Deficiency is Associated with Type 1 Interferon-Pathway Activation and a High Risk of Central Nervous System InflammationClément Triaille, Neha Mohan Rao, Gillian I Rice, et al.The Journal of Experimental Medicine|June 13, 2024
Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupusClémence David, Carlos A Arango-Franco, Mihaly Badonyi, et al.The Journal of Experimental Medicine|August 13, 2021
Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3AAlice Lepelley, Erika Della Mina, Erika Van Nieuwenhove, et al.Rheumatology (Oxford, England)|November 23, 2019
Anti-MDA5 juvenile idiopathic inflammatory myopathy: a specific subgroup defined by differentially enhanced interferon-α signallingIsabelle Melki, Hervé Devilliers, Cyril Gitiaux, et al.Journal of Clinical Immunology|December 5, 2022
Juvenile Neuropsychiatric Systemic Lupus Erythematosus: Identification of Novel Central Neuroinflammation BiomarkersMathilde Labouret, Stefania Costi, Vincent Bondet, et al.The Journal of Experimental Medicine|July 30, 2020
Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signalingAlice Lepelley, Maria José Martin-Niclós, Melvin Le Bihan, et al.Journal of Clinical Immunology|January 7, 2021
Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I InterferonopathiesLorenzo Lodi, Isabelle Melki, Vincent Bondet, et al.Pageof 4