{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,3]],"date-time":"2025-09-03T10:09:50Z","timestamp":1756894190280,"version":"3.37.3"},"reference-count":14,"publisher":"Georg Thieme Verlag KG","issue":"05","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2024,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Aicardi-Gouti\u00e8res syndrome (AGS) is a rare genetic early-onset progressive encephalopathy with variable clinical manifestations. The IFIH1 mutation has been confirmed to be responsible for type I interferon production and activation of the Janus kinase signaling pathway. We herein stress neurological observations and neuroimaging findings in a severe case report of an infant with AGS type 7 due to an IFIH1 mutation who was diagnosed in the first month of life. We also review neurological characteristics of IFIH1 mutations through recent literature.<\/jats:p>","DOI":"10.1055\/a-2321-0597","type":"journal-article","created":{"date-parts":[[2024,5,7]],"date-time":"2024-05-07T23:09:47Z","timestamp":1715123387000},"page":"337-340","source":"Crossref","is-referenced-by-count":1,"title":["Neurological Findings and a Brief Review of the Current Literature in a Severe Case of Aicardi-Gouti\u00e8res Syndrome Due to an IFIH1 Mutation"],"prefix":"10.1055","volume":"55","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-8506-1877","authenticated-orcid":false,"given":"Mojca","family":"\u017deleznik","sequence":"additional","affiliation":[{"name":"Division of Pediatrics, Department of Neonatology, University Medical Centre Ljubljana, Ljubljana, Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tina Vipotnik","family":"Vesnaver","sequence":"additional","affiliation":[{"name":"Institute of Radiology, University Medical Centre Ljubljana, Ljubljana, Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Neubauer","sequence":"additional","affiliation":[{"name":"Division of Pediatrics, Adolescent and Developmental Neurology, Department of Child, University Medical Centre Ljubljana, Ljubljana, Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aneta","family":"Soltirovska-\u0160alamon","sequence":"additional","affiliation":[{"name":"Division of Pediatrics, Department of Neonatology, University Medical Centre Ljubljana, Ljubljana, Slovenia"},{"name":"Department of Pediatrics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2024,5,31]]},"reference":[{"issue":"01","key":"ref1","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1002\/ana.410150109","article-title":"A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis","volume":"15","author":"J Aicardi","year":"1984","journal-title":"Ann Neurol"},{"issue":"01","key":"ref2","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/j.ajhg.2014.06.007","article-title":"Aicardi-Gouti\u00e8res syndrome is caused by IFIH1 mutations","volume":"95","author":"H Oda","year":"2014","journal-title":"Am J Hum Genet"},{"issue":"05","key":"ref3","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1038\/ng.2933","article-title":"Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling","volume":"46","author":"G I Rice","year":"2014","journal-title":"Nat Genet"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.pediatrneurol.2017.09.002","article-title":"Phenotypic and molecular spectrum of Aicardi-Gouti\u00e8res syndrome: a study of 24 patients","volume":"78","author":"F Al Mutairi","year":"2018","journal-title":"Pediatr Neurol"},{"issue":"06","key":"ref5","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1177\/1093526619837797","article-title":"Neuropathological findings in a case of IFIH1-related Aicardi-Gouti\u00e8res syndrome","volume":"22","author":"A Gilani","year":"2019","journal-title":"Pediatr Dev Pathol"},{"issue":"02","key":"ref6","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1002\/ajmg.a.36887","article-title":"Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1","volume":"167A","author":"Y J Crow","year":"2015","journal-title":"Am J Med Genet A"},{"issue":"10","key":"ref7","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1056\/NEJMc2001362","article-title":"Janus kinase inhibition in the Aicardi-Gouti\u00e8res syndrome","volume":"383","author":"A Vanderver","year":"2020","journal-title":"N Engl J Med"},{"issue":"02","key":"ref8","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.ymgme.2020.03.008","article-title":"Development of a neurologic severity scale for Aicardi Gouti\u00e8res syndrome","volume":"130","author":"L A Adang","year":"2020","journal-title":"Mol Genet Metab"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"1033513","DOI":"10.3389\/fimmu.2022.1033513","article-title":"Case report: Pneumocystis jirovecii pneumonia in a severe case of Aicardi-Gouti\u00e8res syndrome with an IFIH1 gain-of-function mutation mimicking combined immunodeficiency","volume":"13","author":"M \u017deleznik","year":"2023","journal-title":"Front Immunol"},{"issue":"04","key":"ref10","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1002\/humu.23975","article-title":"Genetic and phenotypic spectrum associated with IFIH1 gain-of-function","volume":"41","author":"G I Rice","year":"2020","journal-title":"Hum Mutat"},{"issue":"04","key":"ref11","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1016\/j.ymgme.2018.09.004","article-title":"Aicardi Gouti\u00e8res syndrome is associated with pulmonary hypertension","volume":"125","author":"L A Adang","year":"2018","journal-title":"Mol Genet Metab"},{"issue":"06","key":"ref13","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1055\/s-0034-1389161","article-title":"Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia","volume":"45","author":"Y J Crow","year":"2014","journal-title":"Neuropediatrics"},{"issue":"02","key":"ref14","doi-asserted-by":"crossref","first-page":"103646","DOI":"10.1016\/j.ejmg.2019.04.003","article-title":"An extremely severe case of Aicardi-Gouti\u00e8res syndrome 7 with a novel variant in IFIH1","volume":"63","author":"S Amari","year":"2020","journal-title":"Eur J Med Genet"},{"issue":"02","key":"ref15","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/j.immuni.2013.12.014","article-title":"Autoimmune disorders associated with gain of function of the intracellular sensor MDA5","volume":"40","author":"M Funabiki","year":"2014","journal-title":"Immunity"}],"container-title":["Neuropediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-2321-0597.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,5]],"date-time":"2024-11-05T15:01:43Z","timestamp":1730818903000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-2321-0597"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,7]]},"references-count":14,"journal-issue":{"issue":"05","published-online":{"date-parts":[[2024,9,9]]},"published-print":{"date-parts":[[2024,10]]}},"URL":"https:\/\/doi.org\/10.1055\/a-2321-0597","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0174-304X","1439-1899"],"issn-type":[{"type":"print","value":"0174-304X"},{"type":"electronic","value":"1439-1899"}],"subject":[],"published-other":{"date-parts":[[2024,5,7]]},"published":{"date-parts":[[2024,5,7]]}}}