{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T20:14:10Z","timestamp":1788380050460,"version":"build-2803163510"},"reference-count":28,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T00:00:00Z","timestamp":1787529600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T00:00:00Z","timestamp":1788307200000},"content-version":"vor","delay-in-days":9,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Rheumatol"],"DOI":"10.1186\/s12969-026-01264-x","type":"journal-article","created":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T18:05:57Z","timestamp":1787594757000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Neonatal Aicardi\u2013Gouti\u00e8res syndrome presenting with macrophage activation syndrome-like hyperinflammation and severe congenital glaucoma: a case report"],"prefix":"10.1186","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8728-4541","authenticated-orcid":false,"given":"Murat","family":"Konak","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9847-3521","authenticated-orcid":false,"given":"Banu","family":"Bozkurt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0648-9831","authenticated-orcid":false,"given":"G\u00fclay","family":"Ceylaner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9957-8894","authenticated-orcid":false,"given":"M\u00fc\u015ferref Kasap","family":"C\u00fcceo\u011flu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4820-1234","authenticated-orcid":false,"given":"Fatih Mehmet Akif","family":"\u00d6zdemir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4737-1901","authenticated-orcid":false,"given":"Buket","family":"Kara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-6110-2477","authenticated-orcid":false,"given":"Osman Sel\u00e7uk","family":"Duysak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6694-8115","authenticated-orcid":false,"given":"Saime S\u00fcnd\u00fcs","family":"Uygun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,8,24]]},"reference":[{"key":"1264_CR1","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1055\/s-0036-1592307","volume":"47","author":"JH Livingston","year":"2016","unstructured":"Livingston JH, Crow YJ. Neurologic phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi\u2013Gouti\u00e8res syndrome and beyond. Neuropediatrics. 2016;47:355\u201360. https:\/\/doi.org\/10.1055\/s-0036-1592307.","journal-title":"Neuropediatrics"},{"key":"1264_CR2","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1016\/j.pediatrneurol.2017.09.002","volume":"78","author":"F Al Mutairi","year":"2018","unstructured":"Al Mutairi F, Alfadhel M, Nashabat M, et al. Phenotypic and molecular spectrum of Aicardi-Gouti\u00e8res syndrome: a study of 24 patients. Pediatr Neurol. 2018;78:35\u201340. https:\/\/doi.org\/10.1016\/j.pediatrneurol.2017.09.002.","journal-title":"Pediatr Neurol"},{"key":"1264_CR3","doi-asserted-by":"publisher","first-page":"429","DOI":"10.1038\/nri3850","volume":"15","author":"YJ Crow","year":"2015","unstructured":"Crow YJ, Manel N. Aicardi\u2013Gouti\u00e8res syndrome and the type I interferonopathies. Nat Rev Immunol. 2015;15:429\u201340.","journal-title":"Nat Rev Immunol"},{"key":"1264_CR4","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1038\/nri3581","volume":"14","author":"LB Ivashkiv","year":"2014","unstructured":"Ivashkiv LB, Donlin LT. Regulation of type I interferon responses. Nat Rev Immunol. 2014;14:36\u201349.","journal-title":"Nat Rev Immunol"},{"key":"1264_CR5","doi-asserted-by":"publisher","first-page":"296","DOI":"10.1002\/ajmg.a.36887","volume":"167","author":"YJ Crow","year":"2015","unstructured":"Crow YJ, Chase DS, Lowenstein Schmidt J, et al. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Med Genet A. 2015;167:296\u2013312. https:\/\/doi.org\/10.1002\/ajmg.a.36887.","journal-title":"Am J Med Genet A"},{"key":"1264_CR6","doi-asserted-by":"publisher","first-page":"1609","DOI":"10.3390\/jpm13111609","volume":"13","author":"M \u015awierczy\u0144ska","year":"2023","unstructured":"\u015awierczy\u0144ska M, Tronina A, Filipek E. Aicardi\u2013Gouti\u00e8res Syndrome with Congenital Glaucoma Caused by Novel TREX1 Mutation. J Pers Med. 2023;13:1609. https:\/\/doi.org\/10.3390\/jpm13111609.","journal-title":"J Pers Med"},{"key":"1264_CR7","doi-asserted-by":"publisher","first-page":"247","DOI":"10.4103\/ipcares.ipcares_162_21","volume":"1","author":"R Jain","year":"2021","unstructured":"Jain R, Reddy SN, Koneru SSR, Konanki R. Neonatal Onset Aicardi-Gouti\u00e8res Syndrome with Congenital Corneal Edema, Expanding the Phenotype. Indian Pediatr Case Rep. 2021;1:247\u20139. https:\/\/doi.org\/10.4103\/ipcares.ipcares_162_21.","journal-title":"Indian Pediatr Case Rep"},{"key":"1264_CR8","doi-asserted-by":"publisher","first-page":"e165616","DOI":"10.1172\/JCI165616","volume":"133","author":"Z Huang","year":"2023","unstructured":"Huang Z, Brodeur KE, Chen L, et al. Type I interferon signature and cycling lymphocytes in macrophage activation syndrome. J Clin Invest. 2023;133:e165616. https:\/\/doi.org\/10.1172\/JCI165616.","journal-title":"J Clin Invest"},{"key":"1264_CR9","doi-asserted-by":"publisher","first-page":"1332","DOI":"10.1182\/blood.2019000936","volume":"135","author":"SW Canna","year":"2020","unstructured":"Canna SW, Marsh RA. Pediatric hemophagocytic lymphohistiocytosis. Blood. 2020;135:1332\u201343. https:\/\/doi.org\/10.1182\/blood.2019000936.","journal-title":"Blood"},{"key":"1264_CR10","doi-asserted-by":"publisher","first-page":"500","DOI":"10.12659\/AJCR.908036","volume":"19","author":"HM Musalem","year":"2018","unstructured":"Musalem HM, Dirar QS, Al-Hazzaa SAF, et al. Unusual Association of Aniridia with Aicardi-Gouti\u00e8res Syndrome-Related Congenital Glaucoma in a Tertiary Care Center. Am J Case Rep. 2018;19:500\u20134. https:\/\/doi.org\/10.12659\/AJCR.908036.","journal-title":"Am J Case Rep"},{"key":"1264_CR11","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1186\/s12969-024-01036-5","volume":"22","author":"A Gabaldon-Albero","year":"2024","unstructured":"Gabaldon-Albero A, Martin-Grau C, Marti-Masanet M, et al. Aicardi-Gouti\u00e8res syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period. Pediatr Rheumatol. 2024;22:110. https:\/\/doi.org\/10.1186\/s12969-024-01036-5.","journal-title":"Pediatr Rheumatol"},{"key":"1264_CR12","doi-asserted-by":"publisher","first-page":"991","DOI":"10.1016\/j.jaci.2021.07.028","volume":"148","author":"YJ Crow","year":"2021","unstructured":"Crow YJ, Neven B, Fr\u00e9mond ML. JAK inhibition in the type I interferonopathies. J Allergy Clin Immunol. 2021;148:991\u20133. https:\/\/doi.org\/10.1016\/j.jaci.2021.07.028.","journal-title":"J Allergy Clin Immunol"},{"key":"1264_CR13","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1111\/dmcn.14359","volume":"62","author":"YJ Crow","year":"2020","unstructured":"Crow YJ, Shetty J, Livingston JH. Treatments in Aicardi\u2013Gouti\u00e8res syndrome. Dev Med Child Neurol. 2020;62:42\u20137. https:\/\/doi.org\/10.1111\/dmcn.14359.","journal-title":"Dev Med Child Neurol"},{"key":"1264_CR14","doi-asserted-by":"publisher","first-page":"859","DOI":"10.1007\/s11011-021-00716-5","volume":"36","author":"E Mura","year":"2021","unstructured":"Mura E, Masnada S, Antonello C, et al. Ruxolitinib in Aicardi-Gouti\u00e8res syndrome. Metab Brain Dis. 2021;36:859\u201363. https:\/\/doi.org\/10.1007\/s11011-021-00716-5.","journal-title":"Metab Brain Dis"},{"key":"1264_CR15","doi-asserted-by":"publisher","first-page":"2308","DOI":"10.1182\/blood.2024025077","volume":"144","author":"JI Henter","year":"2024","unstructured":"Henter JI. Diagnostic guidelines for familial hemophagocytic lymphohistiocytosis revisited. Blood. 2024;144:2308\u201318. https:\/\/doi.org\/10.1182\/blood.2024025077.","journal-title":"Blood"},{"key":"1264_CR16","unstructured":"National Center for Biotechnology Information. ClinVar. NM_024570.4(RNASEH2B):c.554T\u2009>\u2009G (p.Val185Gly), Variation ID 1263, VCV000001263. https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/1263\/.\u00a0Accessed 11 Aug 2026."},{"key":"1264_CR17","unstructured":"Clinical Genome Resource (ClinGen). Glaucoma Variant Curation Expert Panel. NM_000104.4(CYP1B1):c.1310C\u2009>\u2009T (p.Pro437Leu), ClinVar Variation ID 1254629. Evidence Repository; Pathogenic, approved 19 Nov 2025. https:\/\/erepo.clinicalgenome.org\/evrepo\/ui\/interpretation\/3b462a3f-e735-4bd3-8f92-21b88cbf807f. Accessed 11 Aug 2026."},{"key":"1264_CR18","doi-asserted-by":"publisher","first-page":"1159","DOI":"10.1016\/S1474-4422(13)70258-8","volume":"12","author":"GI Rice","year":"2013","unstructured":"Rice GI, Forte GM, Szynkiewicz M, 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\u201369. https:\/\/doi.org\/10.1016\/S1474-4422(13)70258-8.","journal-title":"Lancet Neurol"},{"key":"1264_CR19","doi-asserted-by":"publisher","first-page":"1193","DOI":"10.3390\/children12091193","volume":"12","author":"E Briassouli","year":"2025","unstructured":"Briassouli E, Syrimi N, Ilia S. Hyperferritinemia and Macrophage Activation Syndrome in Septic Shock: Recent Advances with a Pediatric Focus (2020\u20132025). Children. 2025;12:1193. https:\/\/doi.org\/10.3390\/children12091193.","journal-title":"Children"},{"key":"1264_CR20","first-page":"437","volume":"55","author":"KS Lee","year":"2025","unstructured":"Lee KS, Roh DE, Choi EJ, et al. Recurrent Hemorrhagic Stroke and Microcephaly in a Newborn with Aicardi-Gouti\u00e8res Syndrome Caused by a Homozygous Intronic RNASEH2B Variant. Ann Clin Lab Sci. 2025;55:437\u201342. PMID: 40750230.","journal-title":"Ann Clin Lab Sci"},{"key":"1264_CR21","doi-asserted-by":"publisher","unstructured":"Marinella G, Vaia Y, Politano D, et al. Efficacy of JAK1\/2 inhibitors in AGS genes-related interferonopathies: a multicenter retrospective observational study with treated vs untreated comparison. Mol Genet Metab. 2026;109907. https:\/\/doi.org\/10.1016\/j.ymgme.2026.109907.","DOI":"10.1016\/j.ymgme.2026.109907"},{"key":"1264_CR22","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1093\/intimm\/dxx031","volume":"29","author":"KF Kernan","year":"2017","unstructured":"Kernan KF, Carcillo JA. Hyperferritinemia and inflammation. Int Immunol. 2017;29:401\u20139. https:\/\/doi.org\/10.1093\/intimm\/dxx031.","journal-title":"Int Immunol"},{"key":"1264_CR23","doi-asserted-by":"publisher","first-page":"827815","DOI":"10.3389\/fimmu.2021.827815","volume":"12","author":"H Lindahl","year":"2022","unstructured":"Lindahl H, Bryceson YT. Neuroinflammation associated with inborn errors of immunity. Front Immunol. 2022;12:827815. https:\/\/doi.org\/10.3389\/fimmu.2021.827815.","journal-title":"Front Immunol"},{"key":"1264_CR24","doi-asserted-by":"publisher","unstructured":"Winata CA, Hofer MJ, Castorina A. Chronic interferon-alpha overexpression induces white matter damage and neurovascular abnormalities in a mouse model of Aicardi-Gouti\u00e8res syndrome. Exp Neurol. 2025;115546. https:\/\/doi.org\/10.1016\/j.expneurol.2025.115546.","DOI":"10.1016\/j.expneurol.2025.115546"},{"key":"1264_CR25","doi-asserted-by":"publisher","first-page":"3041","DOI":"10.1172\/JCI98814","volume":"128","author":"GAM Sanchez","year":"2018","unstructured":"Sanchez GAM, Reinhardt A, Ramsey S, et al. JAK1\/2 inhibition with ruxolitinib in the treatment of interferonopathies. J Clin Invest. 2018;128:3041\u201352.","journal-title":"J Clin Invest"},{"key":"1264_CR26","doi-asserted-by":"publisher","first-page":"986","DOI":"10.1056\/NEJMc2001362","volume":"383","author":"A Vanderver","year":"2020","unstructured":"Vanderver A, Adang L, Gavazzi F, et al. Janus kinase inhibition in the Aicardi\u2013Gouti\u00e8res syndrome. N Engl J Med. 2020;383:986\u20139. https:\/\/doi.org\/10.1056\/NEJMc2001362.","journal-title":"N Engl J Med"},{"key":"1264_CR27","doi-asserted-by":"publisher","first-page":"e53888","DOI":"10.7759\/cureus.53888","volume":"16","author":"AM Khayat","year":"2024","unstructured":"Khayat AM, Alshareef BG, Alharbi SF, et al. Consanguineous marriage and its association with genetic disorders in Saudi Arabia: a review. Cureus. 2024;16:e53888. https:\/\/doi.org\/10.7759\/cureus.53888.","journal-title":"Cureus"},{"key":"1264_CR28","doi-asserted-by":"publisher","first-page":"1779","DOI":"10.1073\/pnas.0906079106","volume":"107","author":"AH Bittles","year":"2010","unstructured":"Bittles AH, Black ML. Consanguinity, human evolution, and complex diseases. Proc Natl Acad Sci USA. 2010;107:1779\u201386. https:\/\/doi.org\/10.1073\/pnas.0906079106.","journal-title":"Proc Natl Acad Sci USA"}],"container-title":["Pediatric Rheumatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12969-026-01264-x","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12969-026-01264-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12969-026-01264-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T19:18:32Z","timestamp":1788376712000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1186\/s12969-026-01264-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8,24]]},"references-count":28,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["1264"],"URL":"https:\/\/doi.org\/10.1186\/s12969-026-01264-x","relation":{},"ISSN":["1546-0096"],"issn-type":[{"value":"1546-0096","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8,24]]},"assertion":[{"value":"8 June 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 August 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 August 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Not applicable.","order":1,"name":"Ethics","label":"Ethics approval and consent to participate","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Written informed consent for publication of clinical details and images was obtained from the patient\u2019s parents\/legal guardians. A copy of the consent form is available for review by the Editor of this journal.","order":2,"name":"Ethics","label":"Consent for publication","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"58"}}