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We initially ascertained two patients, one with a purely neurological phenotype and one with features suggestive of systemic sclerosis in a syndromic context, and found them both to demonstrate enhanced interferon-stimulated gene (ISG) expression in blood. We determined each to harbor a previously described de novo dominant-negative heterozygous mutation in ATAD3A, encoding ATPase family AAA domain\u2013containing protein 3A (ATAD3A). We identified five further patients with mutations in ATAD3A and recorded up-regulated ISG expression and interferon \u03b1 protein in four of them. Knockdown of ATAD3A in THP-1 cells resulted in increased interferon signaling, mediated by cyclic GMP-AMP synthase (cGAS) and stimulator of interferon genes (STING). Enhanced interferon signaling was abrogated in THP-1 cells and patient fibroblasts depleted of mtDNA. Thus, mutations in the mitochondrial membrane protein ATAD3A define a novel type I interferonopathy.<\/jats:p>","DOI":"10.1084\/jem.20201560","type":"journal-article","created":{"date-parts":[[2021,7,16]],"date-time":"2021-07-16T02:21:41Z","timestamp":1626402101000},"update-policy":"https:\/\/doi.org\/10.1084\/jem.crossmarkpolicy","source":"Crossref","is-referenced-by-count":98,"title":["Enhanced cGAS-STING\u2013dependent interferon signaling associated with mutations in ATAD3A"],"prefix":"10.1084","volume":"218","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8656-7291","authenticated-orcid":true,"given":"Alice","family":"Lepelley","sequence":"first","affiliation":[{"name":"Universit\u00e9 de Paris, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Unit\u00e9 mixte de recherche 1163, Paris, France 1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8733-7623","authenticated-orcid":true,"given":"Erika","family":"Della Mina","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Paris, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Unit\u00e9 mixte de recherche 1163, Paris, France 1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7933-1800","authenticated-orcid":true,"given":"Erika","family":"Van Nieuwenhove","sequence":"additional","affiliation":[{"name":"Universitair Ziekenhuis Leuven, Department of Pediatrics, Leuven, Belgium 2"},{"name":"Department of Microbiology and Immunology, Laboratory of Adaptive Immunity, Katholieke Universiteit Leuven, Leuven, Belgium 3"},{"name":"VIB-KU Leuven Center for Brain and Disease Research, Leuven, Belgium 4"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2259-620X","authenticated-orcid":true,"given":"Lise","family":"Waumans","sequence":"additional","affiliation":[{"name":"Department of Pathology, Universitair Ziekenhuis Leuven, Campus Gasthuisberg, Leuven, Belgium 5"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6484-0071","authenticated-orcid":true,"given":"Sylvie","family":"Fraitag","sequence":"additional","affiliation":[{"name":"Service d\u2019Anatomo-Pathologie, H\u00f4pital Necker-Enfants-Malades, Assistance Publique - 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