Short-term Efficacy of Tofacitinib, a JAK Inhibitor, in IFIH1-related Aicardi-Goutières Syndrome
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Aicardi-Goutières syndrome (AGS) is a genetically heterogeneous type-I interferonopathy presenting in infancy with intracranial calcifications, white matter lesions, and brain atrophy. AGS7, caused by gain-of-function (GOF) mutations in the IFIH1 gene, trigge... ...
