Case report: Pneumocystis jirovecii pneumonia in a severe case of Aicardi–Goutières syndrome with an IFIH1 gain-of-function mutation mimicking combined immunodeficiency https://t.co/KgUWviKbFz https://t.co/HGHZj5J820
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In our experience, treatment with baricitinib effectively blocks IFN-α activation, but unfortunately, could not stop progression of encephalopathy in AGS type 7. https://t.co/H3dTR0NVdq
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Aicardi–Goutières syndrome with IFIH1 GOF mutation could have heterogeneous phenotype with autoimmune and hyperinflammatory manifestations as well as opportunistic infections https://t.co/H3dTR0NVdq
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RT @Primary_Immune: 🧬Inborn Error of Immunity⚠️ -> "AGS7" in a 13 day-old infant - great job by this team from 🇸🇮 Slovenia in ma…