Neonatal Aicardi-Goutières syndrome presenting with macrophage activation syndrome-like hyperinflammation and severe congenital glaucoma: a case report. (PubMed, Pediatr Rheumatol Online J) - Sep 4, 2026 - "This case illustrates the clinical overlap between neonatal AGS and MAS-like hyperinflammation, underscores the potential role of early mechanism-based therapy in selected critically ill neonates with suspected interferonopathy, and emphasizes the importance of comprehensive genomic evaluation when severe ocular disease accompanies AGS. The identified CYP1B1 variant provides a strong molecular explanation for the patient's congenital glaucoma."
Journal • Aicardi Goutieres Syndrome • Genetic Disorders • Glaucoma • Hematological Disorders • Hemophagocytic lymphohistiocytosis • Immunology • Infectious Disease • Inflammation • Interferonopathies • Ophthalmology • Rare Diseases • CYP1B1 • JAK1 • RNASEH2B
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Banu Bozkurt; Buket Kara; Fatih Mehmet Akif Özdemir; Gülay Ceylaner; Murat Konak; Osman Selçuk Duysak; Saime Sündüs Uygun
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