{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T04:02:27Z","timestamp":1785211347340,"version":"3.55.0"},"reference-count":20,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,12,22]],"date-time":"2023-12-22T00:00:00Z","timestamp":1703203200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Aicardi\u2010Gouti\u00e8res syndrome (AGS) is a genetic interferonopathy classically characterized by early onset of severe neurologic injury with basal ganglia calcifications, white matter abnormalities, and progressive cerebral atrophy, along with lymphocytosis and raised interferon alpha (INF\u03b1) in the cerebrospinal fluid (CSF). Here, we report a 3<jats:sup>1\/2<\/jats:sup> year\u2010old patient born with prenatal onset AGS, first manifesting as intra\u2010uterine growth retardation. Cranial ultrasonography and cerebral MRI revealed ventriculomegaly and periventricular and basal ganglia calcifications, along with cerebral atrophy. Perinatal infections and known metabolic disorders were excluded. Both CSF lymphocytosis and raised INF\u03b1 were present. Molecular analysis disclosed two already described compound heterozygous pathogenic variants in <jats:italic>TREX1<\/jats:italic> (<jats:italic>c. 309dup<\/jats:italic>, <jats:italic>p.<\/jats:italic>(<jats:italic>Thr104Hisfs*53<\/jats:italic>) and <jats:italic>c. 506G\u2009&gt;\u2009A<\/jats:italic>, <jats:italic>p.<\/jats:italic>(<jats:italic>Arg169His<\/jats:italic>)). The evolution was marked by severe global developmental delay with progressive microcephaly. Promptly, the patient developed irritability, quadri\u2010paretic dyskinetic movements, and subsequently tonic seizures. Sensorineural hearing loss was detected as well as glaucoma. Initially, he was symptomatically treated with trihexyphenidyl followed by levetiracetam and topiramate. At age 22\u2009months, baricitinib (0.4\u2009mg\/kg\/day) was introduced, leading to normal serum INF\u03b1 levels. Clinically, dyskinetic movements significantly decreased as well as irritability and sleep disturbance. We confirmed that baricitinib was a useful treatment with no major side effect.<\/jats:p>","DOI":"10.1002\/ajmg.a.63510","type":"journal-article","created":{"date-parts":[[2023,12,23]],"date-time":"2023-12-23T01:43:28Z","timestamp":1703295808000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["<i>TREX\u20101<\/i> related Aicardi\u2010Gouti\u00e8res syndrome improved by Janus kinase inhibitor"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-8919-5443","authenticated-orcid":false,"given":"Claire","family":"Ryckmans","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Neurology Centre Hospitalier de Luxembourg  Luxembourg City Luxembourg"},{"name":"Department of Pediatrics, General Pediatric Service Centre Hospitalier de Luxembourg  Luxembourg City Luxembourg"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Myl\u00e8ne","family":"Donge","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Neurology Centre Hospitalier de Luxembourg  Luxembourg City Luxembourg"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonia","family":"March\u00e8se","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Neurology Centre Hospitalier de Luxembourg  Luxembourg City Luxembourg"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meriem","family":"Mastouri","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, General Pediatric Service Centre Hospitalier de Luxembourg  Luxembourg City Luxembourg"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Thomee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, General Pediatric Service Centre Hospitalier de Luxembourg  Luxembourg City Luxembourg"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrien","family":"Stouffs","sequence":"additional","affiliation":[{"name":"Clinical Sciences, Research Group Reproduction and Genetics, Centre for Medical Genetics Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel)  Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra\u2010Lucile","family":"Lieser","sequence":"additional","affiliation":[{"name":"General Pediatric Service Centre Hospitalier de Luxembourg  Luxembourg City Luxembourg"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Scalais","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Neurology Centre Hospitalier de Luxembourg  Luxembourg City Luxembourg"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,12,22]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2020.03.008"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/keab860"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.3.183"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1845"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1842"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.14268"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/cei.12115"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/ddg.14921"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/annrheumdis-2021-221814"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13555-021-00517-9"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/cpt.936"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0036-1592307"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.40805"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11011-021-00716-5"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1086\/521373"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.373"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2933"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2414"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-020-00737-3"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1056\/nejmc2001362"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63510","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,15]],"date-time":"2025-05-15T13:57:59Z","timestamp":1747317479000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63510"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,22]]},"references-count":20,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2024,5]]}},"alternative-id":["10.1002\/ajmg.a.63510"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63510","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,12,22]]},"assertion":[{"value":"2023-09-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-10","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-22","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63510"}}