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We studied two new Iranian patients homozygous for STAT2 p.R148Q variant presenting with life-threatening neuroinflammation and respiratory failure. Patient 1 developed seizures, brain calcifications, and severe pneumonia, achieving dramatic improvement with high-dose ruxolitinib. Patient 2 presented with lymphadenopathy, encephalitis, and recurrent infections and died from respiratory failure at 8.5 years. Haplotype and principal component analysis (PCA) analysis revealed a founder variant originating \u223c491 years ago in the Middle East\/North African region. A review of five published cases and these two patients demonstrated constant neurological involvement and a high mortality rate. Early recognition and high-dose JAK inhibitor therapy may improve outcomes in this devastating but potentially treatable interferonopathy.<\/jats:p>","DOI":"10.70962\/jhi.20260001","type":"journal-article","created":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T06:22:08Z","timestamp":1777443728000},"update-policy":"https:\/\/doi.org\/10.70962\/jhi.crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["STAT2 R148 variant: A 16th-century founder mutation and clinical response to high-dose JAK inhibitor therapy"],"prefix":"10.70962","volume":"2","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3397-9716","authenticated-orcid":true,"given":"Nima","family":"Parvaneh","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/01c4pz451","id-type":"ROR","asserted-by":"publisher"}],"name":"Children\u2019s Medical Center, Tehran University of Medical Sciences 1 Division of Allergy and Clinical Immunology, Department of Pediatrics, , 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