Efficacy of Baricitinib on Chronic Pericardial Effusion in a Patient with Aicardi-Goutières Syndrome.

Dear Editor, Aicardi–Goutières syndrome (AGS) was initially described as an early-onset progressive encephalopathy with severe neurological symptoms, acquired microcephaly, basal ganglia calcification, leukoencephalopathy, cerebral atrophy and chronic cerebrospinal fluid (CSF) pleocytosis [1]. Subsequently, autoinflammatory systemic manifestations (e.g. recurrent sterile fevers, chilblain-like lesions, hepatitis) and elevated CSF IFN-α activity were also reported [1]. Nine genes that encode proteins involved in nucleotide metabolism and/or sensing (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, IFIH1, LSM11 and RNU7-1) have been associated to AGS [2]. Mutations in these genes result in constitutive induction of type I IFN and upregulation of IFN-stimulated genes (ISGs) [3]. The IFN signature (IS) measures the expression of ISG in peripheral blood and is a useful marker for disease activity [3]. Janus kinase (JAK) inhibitors may be effective in blocking IFN activation in...