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Genetic defects resulting in activation of type 1 interferon (IFN) responses have been documented to cause Aicardi-Gouti\u00e8res syndrome, which is a cause of PTS. Ubiquitin-specific peptidase 18 (USP18) is a key negative regulator of type I IFN signaling. In this study, we identified loss-of-function recessive mutations of USP18 in five PTS patients from two unrelated families. Ex vivo brain autopsy material demonstrated innate immune inflammation with calcification and polymicrogyria. In vitro, patient fibroblasts displayed severely enhanced IFN-induced inflammation, which was completely rescued by lentiviral transduction of USP18. These findings add USP18 deficiency to the list of genetic disorders collectively termed type I interferonopathies. Moreover, USP18 deficiency represents the first genetic disorder of PTS caused by dysregulation of the response to type I IFNs. Therapeutically, this places USP18 as a promising target not only for genetic but also acquired IFN-mediated CNS disorders.<\/jats:p>","DOI":"10.1084\/jem.20151529","type":"journal-article","created":{"date-parts":[[2016,6,20]],"date-time":"2016-06-20T12:51:39Z","timestamp":1466427099000},"page":"1163-1174","update-policy":"https:\/\/doi.org\/10.1084\/jem.crossmarkpolicy","source":"Crossref","is-referenced-by-count":297,"title":["Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome"],"prefix":"10.1084","volume":"213","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9226-8159","authenticated-orcid":false,"given":"Marije E.C.","family":"Meuwissen","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics, Erasmus University Medical Center, 3015 CE Rotterdam, the Netherlands 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