• Ben X Wang, Stephanie A Grover, Peter Kannu, Grace Yoon, Ronald M Laxer, YehE AnnEA4 Department of Pediatrics, The Hospital for Sick Children, University of Toronto , Toronto, Ontario, Canada ., and Eleanor N Fish.
• 1 Toronto General Research Institute, University Health Network , Toronto, Ontario, Canada .
• J. Interferon Cytokine Res. 2017 Apr 1; 37 (4): 147-152.

AbstractAicardi-Goutières syndrome (AGS) is an early-onset, genetic disease characterized by recurrent fever, multifocal lesions of the brain, and systemic autoimmunity. We report on 3 AGS patients, 2 siblings with an RNASEH2A gene mutation and 1 patient with a SAMHD1 gene mutation. Serial analysis of peripheral blood from all 3 AGS patients showed consistently elevated expression of the interferon-stimulated genes (ISGs): ISG15, RSAD2, and IFI27, not observed in unaffected family members. Enumeration of circulating white blood cells and platelets and examination of C-reactive protein showed no significant deviation from the normal range for Patient 2 with the RNASEH2A mutation and Patient 3 with the SAMHD1 mutation, even when Patient 2 had magnetic resonance imaging abnormalities and ongoing febrile episodes. Erythrocyte sedimentation rates fluctuated within the normal range for Patient 2, with some elevation, yet, were in the normal range during the second febrile episode when there were accompanying neurological abnormalities. These preliminary data suggest that ISG expression may be a more specific indicator of disease activity in comparison to standard inflammatory markers.

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