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Janus kinase (JAK) inhibition has emerged as a potential treatment for AGS. <jats:italic>RNU7\u20101<\/jats:italic> is one of the most recently discovered genes for AGS, and the clinical effects of JAK inhibition in these patients have not been reported. Here, we describe the diagnosis and treatment of a South African infant with <jats:italic>RNU7\u20101<\/jats:italic>\u2010related AGS. The patient presented with developmental delay at age 5\u2009months and was diagnosed with cerebral palsy due to a suspected congenital infection. By 18\u2009months of age, he had a vasculitic rash, prominent generalized dystonia, persistent transaminitis, recurrent stomatitis, moderate\u2010range global developmental delay, and difficulty sleeping. AGS was considered after finding neuroimaging features of the disease; the diagnosis was confirmed when genetic investigations revealed two likely pathogenic <jats:italic>RNU7\u20101<\/jats:italic> compound heterozygous variants in the patient. Elevated interferon gene expression was noted in the patient and his mother who was a carrier of one <jats:italic>RNU7\u20101<\/jats:italic> variant. Baricitinib treatment was started, leading to modest, transient improvements in some clinical manifestations and a reduction in interferon\u2010stimulated gene expression. Liver function, dystonia, and neurological function did not improve even after increasing the baricitinib dose. Baricitinib was discontinued due to persistent and worsening adverse effects.<\/jats:p>","DOI":"10.1002\/ajmg.a.63978","type":"journal-article","created":{"date-parts":[[2025,1,3]],"date-time":"2025-01-03T07:01:14Z","timestamp":1735887674000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Baricitinib Treatment in <scp>RNU7<\/scp>\u20101\u2010Associated Aicardi\u2013Gouti\u00e8res Syndrome in a South African Child: A Case Report"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7919-6848","authenticated-orcid":false,"given":"Timothy F.","family":"Spracklen","sequence":"first","affiliation":[{"name":"Department of Paediatrics and Child Health University of Cape Town  Cape Town South Africa"},{"name":"Cape Heart Institute, University of Cape Town  Cape Town South 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