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The Journal of Experimental Medicine|February 19, 2021
LACC1 deficiency links juvenile arthritis with autophagy and metabolism in macrophagesOmmar Omarjee, Anne-Laure Mathieu, Gaëlle Quiniou, et al.
The Journal of Allergy and Clinical Immunology|January 15, 2017
Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signalingIsabelle Melki, Yoann Rose, Carolina Uggenti, et al.
American Journal of Medical Genetics. Part A|December 14, 2007
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)T A Briggs, G M H Abdel-Salam, M Balicki, et al.
Journal of Clinical Immunology|March 9, 2016
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive SurveyTracy A Briggs, Gillian I Rice, Navid Adib, 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.
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