{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T03:27:55Z","timestamp":1780370875895,"version":"3.54.1"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,9,10]]},"DOI":"10.7759\/cureus.91952","type":"journal-article","created":{"date-parts":[[2025,9,10]],"date-time":"2025-09-10T07:40:54Z","timestamp":1757490054000},"source":"Crossref","is-referenced-by-count":1,"title":["USP18 Deficiency Presenting as Severe Neonatal Encephalopathy: A Case Report and Review of Pseudo-TORCH Syndromes"],"prefix":"10.7759","author":[{"given":"Amjed","family":"Alattas","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malak","family":"Alsamnan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.20.3.210","article-title":"Microcephaly and intracranial calcification in two brothers","volume":"20","author":"Baraitser M","year":"1983","unstructured":"Baraitser M, Brett EM, Piesowicz AT. Microcephaly and intracranial calcification in two brothers. J Med Genet. 1983, 20:210-2. 10.1136\/jmg.20.3.210","journal-title":"J Med Genet"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320520112","article-title":"Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease","volume":"52","author":"Reardon W","year":"1994","unstructured":"Reardon W, Hockey A, Silberstein P, et al.. Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease. Am J Med Genet. 1994, 52:58-65. 10.1002\/ajmg.1320520112","journal-title":"Am J Med Genet"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-59565-2.00031-9","article-title":"Aicardi-Gouti\u00e8res syndrome","volume":"113","author":"Crow YJ","year":"2013","unstructured":"Crow YJ. Aicardi-Gouti\u00e8res syndrome. Handb Clin Neurol. 2013, 113:1629-35. 10.1016\/B978-0-444-59565-2.00031-9","journal-title":"Handb Clin Neurol"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20151529","article-title":"Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome","volume":"213","author":"Meuwissen ME","year":"2016","unstructured":"Meuwissen ME, Schot R, Buta S, et al.. Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome. J Exp Med. 2016, 213:1163-74. 10.1084\/jem.20151529","journal-title":"J Exp Med"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32614","article-title":"Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct \u201cpseudo-TORCH\u201d phenotype","volume":"146","author":"Briggs TA","year":"2008","unstructured":"Briggs TA, Wolf NI, D\u2019Arrigo S, et al.. Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct \u201cpseudo-TORCH\u201d phenotype. Am J Med Genet A. 2008, 146:3173-80. 10.1002\/ajmg.a.32614","journal-title":"Am J Med Genet A"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20138","article-title":"Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome)","volume":"120","author":"Knoblauch H","year":"2003","unstructured":"Knoblauch H, Tennstedt C, Brueck W, et al.. Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome). Am J Med Genet A. 2003, 120:261-5. 10.1002\/ajmg.a.20138","journal-title":"Am J Med Genet A"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.4103\/1793-5482.145162","article-title":"Extensive intracranial calcification of pseudo-TORCH syndrome with features of Dandy-Walker malformation","volume":"12","author":"Patnaik A","year":"2017","unstructured":"Patnaik A, Mishra SS, Das S. Extensive intracranial calcification of pseudo-TORCH syndrome with features of Dandy-Walker malformation. Asian J Neurosurg. 2017, 12:541-3. 10.4103\/1793-5482.145162","journal-title":"Asian J Neurosurg"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.07.012","article-title":"Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria","volume":"87","author":"O\u2019Driscoll MC","year":"2010","unstructured":"O\u2019Driscoll MC, Daly SB, Urquhart JE, et al.. Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. Am J Hum Genet. 2010, 87:354-64. 10.1016\/j.ajhg.2010.07.012","journal-title":"Am J Hum Genet"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2020.103923","article-title":"A homozygote frameshift mutation in OCLN gene results in pseudo-TORCH syndrome type I: a case report extending the phenotype with central diabetes insipidus and renal dysfunction","volume":"63","author":"Ekinci F","year":"2020","unstructured":"Ekinci F, Yildizdas RD, Horoz OO, Herguner O, Bisgin A. A homozygote frameshift mutation in OCLN gene results in pseudo-TORCH syndrome type I: a case report extending the phenotype with central diabetes insipidus and renal dysfunction. Eur J Med Genet. 2020, 63:103923. 10.1016\/j.ejmg.2020.103923","journal-title":"Eur J Med Genet"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1126\/sciimmunol.aav7501","article-title":"Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2","volume":"4","author":"Duncan CJA","year":"2019","unstructured":"Duncan CJA, Thompson BJ, Chen R, et al.. Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2. Sci Immunol. 2019, 4:7501. 10.1126\/sciimmunol.aav7501","journal-title":"Sci Immunol"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20192319","article-title":"Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy","volume":"217","author":"Gruber C","year":"2020","unstructured":"Gruber C, Martin-Fernandez M, Ailal F, et al.. Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy. J Exp Med. 2020, 217:20192319. 10.1084\/jem.20192319","journal-title":"J Exp Med"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.autrev.2012.08.012","article-title":"Aicardi-Gouti\u00e8res syndrome, a rare neurological disease in children: a new autoimmune disorder?","volume":"12","author":"Fazzi E","year":"2013","unstructured":"Fazzi E, Cattalini M, Orcesi S, et al.. Aicardi-Gouti\u00e8res syndrome, a rare neurological disease in children: a new autoimmune disorder?. Autoimmun Rev. 2013, 12:506-9. 10.1016\/j.autrev.2012.08.012","journal-title":"Autoimmun Rev"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-021-05480-z","article-title":"A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset","volume":"42","author":"De Rose DU","year":"2021","unstructured":"De Rose DU, Gallini F, Battaglia DI, et al.. A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset. Neurol Sci. 2021, 42:4759-65. 10.1007\/s10072-021-05480-z","journal-title":"Neurol Sci"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.10.026","article-title":"A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts","volume":"87","author":"Mochida GH","year":"2010","unstructured":"Mochida GH, Ganesh VS, Felie JM, et al.. A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Am J Hum Genet. 2010, 87:882-9. 10.1016\/j.ajhg.2010.10.026","journal-title":"Am J Hum Genet"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1905633","article-title":"JAK inhibitor therapy in a child with inherited USP18 deficiency","volume":"382","author":"Alsohime F","year":"2020","unstructured":"Alsohime F, Martin-Fernandez M, Temsah MH, et al.. JAK inhibitor therapy in a child with inherited USP18 deficiency. N Engl J Med. 2020, 382:256-65. 10.1056\/NEJMoa1905633","journal-title":"N Engl J Med"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(13)70258-8","article-title":"Assessment of interferon-related biomarkers in Aicardi-Gouti\u00e8res syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study","volume":"12","author":"Rice GI","year":"2013","unstructured":"Rice GI, Newman WG, Dean J, et al.. Assessment of interferon-related biomarkers in Aicardi-Gouti\u00e8res syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. Lancet Neurol. 2013, 12:1159-69. 10.1016\/S1474-4422(13)70258-8","journal-title":"Lancet Neurol"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/408107-usp18-deficiency-presenting-as-severe-neonatal-encephalopathy-a-case-report-and-review-of-pseudo-torch-syndromes","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,10]],"date-time":"2025-09-10T07:40:54Z","timestamp":1757490054000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/408107-usp18-deficiency-presenting-as-severe-neonatal-encephalopathy-a-case-report-and-review-of-pseudo-torch-syndromes"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,10]]},"references-count":16,"URL":"https:\/\/doi.org\/10.7759\/cureus.91952","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2025,9,10]]}}}