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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...

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Autores principales: Pararajasingam, Abirami, Bradley, Rachel E., Evans, Jennifer, Lowe, Ashima, Goodwin, Richard, Jolles, Stephen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9085217/
https://www.ncbi.nlm.nih.gov/pubmed/35547545
http://dx.doi.org/10.3389/fped.2022.837568
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author Pararajasingam, Abirami
Bradley, Rachel E.
Evans, Jennifer
Lowe, Ashima
Goodwin, Richard
Jolles, Stephen
author_facet Pararajasingam, Abirami
Bradley, Rachel E.
Evans, Jennifer
Lowe, Ashima
Goodwin, Richard
Jolles, Stephen
author_sort Pararajasingam, Abirami
collection PubMed
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.
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spelling pubmed-90852172022-05-10 Case Report: Generalised Panniculitis as a Post-COVID-19 Presentation in Aicardi-Goutières Syndrome Treated With Ruxolitinib Pararajasingam, Abirami Bradley, Rachel E. Evans, Jennifer Lowe, Ashima Goodwin, Richard Jolles, Stephen Front Pediatr Pediatrics 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. Frontiers Media S.A. 2022-04-25 /pmc/articles/PMC9085217/ /pubmed/35547545 http://dx.doi.org/10.3389/fped.2022.837568 Text en Copyright © 2022 Pararajasingam, Bradley, Evans, Lowe, Goodwin and Jolles. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Pararajasingam, Abirami
Bradley, Rachel E.
Evans, Jennifer
Lowe, Ashima
Goodwin, Richard
Jolles, Stephen
Case Report: Generalised Panniculitis as a Post-COVID-19 Presentation in Aicardi-Goutières Syndrome Treated With Ruxolitinib
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-goutières syndrome treated with ruxolitinib
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9085217/
https://www.ncbi.nlm.nih.gov/pubmed/35547545
http://dx.doi.org/10.3389/fped.2022.837568
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