Case Report: Generalised Panniculitis as a Post-COVID-19 Presentation in Aicardi-Goutières Syndrome Treated With Ruxolitinib
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. Whils...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-04-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2022.837568/full |
| _version_ | 1818048724049330176 |
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| author | Abirami Pararajasingam Rachel E. Bradley Jennifer Evans Ashima Lowe Richard Goodwin Stephen Jolles |
| author_facet | Abirami Pararajasingam Rachel E. Bradley Jennifer Evans Ashima Lowe Richard Goodwin Stephen Jolles |
| author_sort | Abirami Pararajasingam |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-10T10:26:14Z |
| format | Article |
| id | doaj.art-eee2751775ac42d29dcea80f7a2dde13 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-12-10T10:26:14Z |
| publishDate | 2022-04-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-eee2751775ac42d29dcea80f7a2dde132022-12-22T01:52:44ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602022-04-011010.3389/fped.2022.837568837568Case Report: Generalised Panniculitis as a Post-COVID-19 Presentation in Aicardi-Goutières Syndrome Treated With RuxolitinibAbirami Pararajasingam0Rachel E. Bradley1Jennifer Evans2Ashima Lowe3Richard Goodwin4Stephen Jolles5Department of Dermatology, Aneurin Bevan University Health Board, Newport, United KingdomImmunodeficiency Centre for Wales, University Hospital of Wales, Cardiff, United KingdomDepartment of Paediatrics, University Hospital of Wales, Cardiff, United KingdomDepartment of Dermatology, Aneurin Bevan University Health Board, Newport, United KingdomDepartment of Dermatology, Aneurin Bevan University Health Board, Newport, United KingdomImmunodeficiency Centre for Wales, University Hospital of Wales, Cardiff, United KingdomAicardi-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.https://www.frontiersin.org/articles/10.3389/fped.2022.837568/fullAicardi-Goutières syndromeCOVID-19ruxolitinibpanniculitisSAMHD1 mutation |
| spellingShingle | Abirami Pararajasingam Rachel E. Bradley Jennifer Evans Ashima Lowe Richard Goodwin Stephen Jolles Case Report: Generalised Panniculitis as a Post-COVID-19 Presentation in Aicardi-Goutières Syndrome Treated With Ruxolitinib Frontiers in Pediatrics Aicardi-Goutières syndrome COVID-19 ruxolitinib panniculitis SAMHD1 mutation |
| title | Case Report: Generalised Panniculitis as a Post-COVID-19 Presentation in Aicardi-Goutières Syndrome Treated With Ruxolitinib |
| title_full | Case Report: Generalised Panniculitis as a Post-COVID-19 Presentation in Aicardi-Goutières Syndrome Treated With Ruxolitinib |
| title_fullStr | Case Report: Generalised Panniculitis as a Post-COVID-19 Presentation in Aicardi-Goutières Syndrome Treated With Ruxolitinib |
| title_full_unstemmed | Case Report: Generalised Panniculitis as a Post-COVID-19 Presentation in Aicardi-Goutières Syndrome Treated With Ruxolitinib |
| title_short | Case Report: Generalised Panniculitis as a Post-COVID-19 Presentation in Aicardi-Goutières Syndrome Treated With Ruxolitinib |
| title_sort | case report generalised panniculitis as a post covid 19 presentation in aicardi goutieres syndrome treated with ruxolitinib |
| topic | Aicardi-Goutières syndrome COVID-19 ruxolitinib panniculitis SAMHD1 mutation |
| url | https://www.frontiersin.org/articles/10.3389/fped.2022.837568/full |
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