IFN-α levels in ruxolitinib-treatead Aicardi-Goutières patient during SARS-CoV-2 infection: A case report

Badolato, Raffaele; Cattalini, Marco; Scaduto, Rosaria; Roversi, Sara; Galli, Jessica; Ferraro, Rosalba Monica; Cortesi, Manuela; Orcesi, Simona; Giliani, Silvia; Fazzi, Elisa

doi:10.1016/j.clim.2021.108743

Cited by 1 publication

(1 citation statement)

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“…While numbers are very limited, it is of interest that all three, including the two other patients with biallelic RNASEH2B variants, had completely asymptomatic “silent” COVID-19 infections possibly suggesting a protective effect of IFN upregulation in the setting of viral infection. Indeed, one recent case report shows increased IFN levels from baseline in a patient with AGS suffering from mild COVID-19 illness ( 22 ).…”

Section: Discussionmentioning

confidence: 99%

Case Report: Generalised Panniculitis as a Post-COVID-19 Presentation in Aicardi-Goutières Syndrome Treated With Ruxolitinib

et al. 2022

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Aicardi-Goutières syndrome (AGS) is a rare hereditary early-onset encephalopathy. The syndrome was first described in 1984, and is characterised by upregulation of the type I interferon (IFN) pathway, which is involved in the host immune response against viral infections, including SARS-CoV-2. Whilst defects in type I IFN pathways have been described in association with severe coronavirus disease 2019 (COVID-19), less is known about the outcomes of upregulation. We describe an unusual case of generalised panniculitis as a post-COVID-19 phenomenon in a child with AGS. Our patient was initially managed with systemic steroid therapy, but due to relapse of symptoms on weaning, an alternative therapy was sought. In this case, a novel use of ruxolitinib, a JAK inhibitor, has resulted in lasting remission without complications. We discuss the probable protective role of IFN upregulation following COVID-19 infection in AGS and possible immunological mechanisms driving the panniculitis and therapeutic response in our case.

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Section: Discussionmentioning

confidence: 99%