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Use of Tofacitinib for infant-onset STING-associated vasculopathy: A case report from China
Stimulator of interferon gene (STING)-associated vasculopathy with onset in infancy (SAVI), caused by gain-of-function mutations in human transmembrane protein 173 (TMEM173), is characterized by widespread chronic inflammation primarily affecting the skin and lungs. Although SAVI is an inflammatory...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9726360/ https://www.ncbi.nlm.nih.gov/pubmed/36482559 http://dx.doi.org/10.1097/MD.0000000000031832 |
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author | Shen, Danping Fan, Xiaorui Zhou, Qing Xu, Xuefeng Lu, Meiping |
author_facet | Shen, Danping Fan, Xiaorui Zhou, Qing Xu, Xuefeng Lu, Meiping |
author_sort | Shen, Danping |
collection | PubMed |
description | Stimulator of interferon gene (STING)-associated vasculopathy with onset in infancy (SAVI), caused by gain-of-function mutations in human transmembrane protein 173 (TMEM173), is characterized by widespread chronic inflammation primarily affecting the skin and lungs. Although SAVI is an inflammatory disease, typical anti-inflammatory agents have limited or no effect. METHODS AND RESULTS: A 1-year-old boy presented with recurrent facial rashes since he was 8 months. Moreover, he suffered from recurrent oral ulcers, chronic cough, and failure to thrive. Laboratory parameters showed elevated erythrocyte sedimentation rate (ESR) and immunoglobulin levels. Chest high-resolution computed tomography (HRCT) showed interstitial lung disease (ILD). Whole-exome sequencing revealed a heterozygous mutation in the TMEM173 gene (c.463G > A, p.V155M). Ultimately, the patient was diagnosed with SAVI. Tofacitinib was initiated at the age of 19 months, resulting in the alleviation of facial rashes and improvement of ILD within 3 months. CONCLUSION: SAVI is a difficult-to-treat type I interferonopathy. We hope that JAKi treatment will prove valuable for SAVI patients. |
format | Online Article Text |
id | pubmed-9726360 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Lippincott Williams & Wilkins |
record_format | MEDLINE/PubMed |
spelling | pubmed-97263602022-12-09 Use of Tofacitinib for infant-onset STING-associated vasculopathy: A case report from China Shen, Danping Fan, Xiaorui Zhou, Qing Xu, Xuefeng Lu, Meiping Medicine (Baltimore) 3600 Stimulator of interferon gene (STING)-associated vasculopathy with onset in infancy (SAVI), caused by gain-of-function mutations in human transmembrane protein 173 (TMEM173), is characterized by widespread chronic inflammation primarily affecting the skin and lungs. Although SAVI is an inflammatory disease, typical anti-inflammatory agents have limited or no effect. METHODS AND RESULTS: A 1-year-old boy presented with recurrent facial rashes since he was 8 months. Moreover, he suffered from recurrent oral ulcers, chronic cough, and failure to thrive. Laboratory parameters showed elevated erythrocyte sedimentation rate (ESR) and immunoglobulin levels. Chest high-resolution computed tomography (HRCT) showed interstitial lung disease (ILD). Whole-exome sequencing revealed a heterozygous mutation in the TMEM173 gene (c.463G > A, p.V155M). Ultimately, the patient was diagnosed with SAVI. Tofacitinib was initiated at the age of 19 months, resulting in the alleviation of facial rashes and improvement of ILD within 3 months. CONCLUSION: SAVI is a difficult-to-treat type I interferonopathy. We hope that JAKi treatment will prove valuable for SAVI patients. Lippincott Williams & Wilkins 2022-12-02 /pmc/articles/PMC9726360/ /pubmed/36482559 http://dx.doi.org/10.1097/MD.0000000000031832 Text en Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License 4.0 (CCBY) (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | 3600 Shen, Danping Fan, Xiaorui Zhou, Qing Xu, Xuefeng Lu, Meiping Use of Tofacitinib for infant-onset STING-associated vasculopathy: A case report from China |
title | Use of Tofacitinib for infant-onset STING-associated vasculopathy: A case report from China |
title_full | Use of Tofacitinib for infant-onset STING-associated vasculopathy: A case report from China |
title_fullStr | Use of Tofacitinib for infant-onset STING-associated vasculopathy: A case report from China |
title_full_unstemmed | Use of Tofacitinib for infant-onset STING-associated vasculopathy: A case report from China |
title_short | Use of Tofacitinib for infant-onset STING-associated vasculopathy: A case report from China |
title_sort | use of tofacitinib for infant-onset sting-associated vasculopathy: a case report from china |
topic | 3600 |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9726360/ https://www.ncbi.nlm.nih.gov/pubmed/36482559 http://dx.doi.org/10.1097/MD.0000000000031832 |
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