26rhk175 10.3205/26rhk175 urn:nbn:de:0183-26rhk1756 Meeting Abstract Tietz Tietz Lara Antonia LA

University Hospital Leipzig, Hospital for Children and Adolescents, Department of Pediatric Immunology, Rheumatology and Infectiology, Leipzig, Deutschland

author Dunst Dunst Franziska F

University Hospital Leipzig, Hospital for Children and Adolescents, Department of Pediatric Immunology, Rheumatology and Infectiology, Leipzig, Deutschland

author Hohmann Hohmann Tamara T

University Hospital Leipzig, Hospital for Children and Adolescents, Department of Pediatric Immunology, Rheumatology and Infectiology, Leipzig, Deutschland

author Opitz Opitz Linda L

University Hospital Leipzig, Hospital for Children and Adolescents, Department of Pediatric Immunology, Rheumatology and Infectiology, Leipzig, Deutschland

author Merkenschlager Merkenschlager Andreas A

University Hospital Leipzig, Hospital for Children and Adolescents, Department of Pediatric Neurology, Leipzig, Deutschland

author Gräfe Gräfe Daniel D

University Hospital Leipzig, Department of Diagnostic and Interventional Radiology, Leipzig, Deutschland

author Klemann Klemann Christian C

University Hospital Leipzig, Hospital for Children and Adolescents, Department of Pediatric Immunology, Rheumatology and Infectiology, Leipzig, Deutschland

author German Medical Science GMS Publishing House

Düsseldorf

610 20260909 engl This is an Open Access article distributed under the terms of the Creative Commons Attribution 4.0 License. Dieser Artikel ist ein Open-Access-Artikel und steht unter den Lizenzbedingungen der Creative Commons Attribution 4.0 License (Namensnennung). M0656 175 Deutsche Gesellschaft für Rheumatologie Deutsche Gesellschaft für Orthopädische Rheumatologie Gesellschaft für Kinder- und Jugendrheumatologie 54. Kongress der Deutschen Gesellschaft für Rheumatologie und Klinische Immunologie (DGRh), 36. Jahrestagung der Gesellschaft für Kinder- und Jugendrheumatologie (GKJR), 40. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie (DGORh) Deutscher Rheumatologiekongress 2026 Kinderrheumatologie Leipzig 20260909 20260912 KI.36 TextIntroduction: Aicardi–Goutières Syndrome (AGS) is a prototypic type I interferonopathy characterized by chronic interferon signalling, early-onset neuroinflammation, and frequently irreversible neurological damage. Janus kinase inhibitors (JAKi) have emerged as a targeted therapeutic option, but paediatric real-world data remain limited.Methods: We retrospectively analysed four genetically confirmed paediatric AGS patients treated with ruxolitinib at a single centre and performed a systematic review of published AGS cases receiving JAKi. Clinical phenotype, treatment tolerance, and outcome were assessed descriptively.Results: Our cohort included patients with IFIH1 (n=1), ADAR1 (n=2), and TREX1 (n=1) variants, spanning neonatal pseudo-TORCH disease to later-onset neurological phenotypes. Ruxolitinib was well tolerated and associated with clinically meaningful benefit in all four patients, including developmental progress, improved motor function, reduced feeding difficulties, and radiological stabilization or partial regression of cerebral abnormalities. The most pronounced benefit was observed when treatment was initiated during ongoing inflammatory activity before fixed damage had fully evolved, although relevant improvement was also seen after delayed initiation. The literature review identified 97 published AGS patients treated with JAKi. Among evaluable cases, 54.4% improved and 32.4% remained stable, whereas 4.4% deteriorated and 7.4% died. Neurological manifestations were present in 88% and improved or stabilized in most reported cases. Dermatological and constitutional features showed the highest response rates. Earlier treatment tended to be associated with greater functional gain. In contrast, changes in interferon signature did not consistently parallel clinical response.Conclusion: JAK inhibition is a feasible and clinically meaningful treatment strategy in paediatric AGS, with benefits across neurological and extra-neurological domains. 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