Response to two Janus kinase inhibitors in a boy with SAVI during 2-year follow-up: case report and literature review
STING-associated vasculopathy with onset in infancy (SAVI) represents an identified rare type I interferonopathy, triggered by gain-of-function mutations in the STING1 gene. It is characterized by early-onset systemic inflammation, cutaneous vasculopathy, pulmonary involvement, and recurrent bacteri...
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| Format: | Article |
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Frontiers Media S.A.
2025-07-01
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| Series: | Frontiers in Immunology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fimmu.2025.1615075/full |
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| author | Yiting Chen Yiting Chen Wenhe Zang Haoyuan Zhong Xianqin Deng Wenting Zhong Wenting Zhong Lianyu Wang Lianyu Wang Xinying Chen Xinying Chen Xinying Chen |
| author_facet | Yiting Chen Yiting Chen Wenhe Zang Haoyuan Zhong Xianqin Deng Wenting Zhong Wenting Zhong Lianyu Wang Lianyu Wang Xinying Chen Xinying Chen Xinying Chen |
| author_sort | Yiting Chen |
| collection | DOAJ |
| description | STING-associated vasculopathy with onset in infancy (SAVI) represents an identified rare type I interferonopathy, triggered by gain-of-function mutations in the STING1 gene. It is characterized by early-onset systemic inflammation, cutaneous vasculopathy, pulmonary involvement, and recurrent bacterial infections. When conventional treatments prove ineffective in managing clinical symptoms, a high index of suspicion and prompt genetic testing become pivotal in considering the potential therapeutic role of Janus kinase (JAK) inhibitors, with ruxolitinib and tofacitinib emerging as promising treatment options. Here, we present a case involving a patient with severe lung manifestations of SAVI, treated initially with tofacitinib and later switched to ruxolitinib due to inadequate response. During a 24-month follow-up period, while symptoms stabilized under ruxolitinib, chest computed tomography (CT) scans revealed progressive changes. This case report offers valuable insights into the use of JAK inhibitors in a patient with SAVI. It illustrates the complexities of managing such cases and underscores the need for continued investigation into novel therapeutic approaches. |
| format | Article |
| id | doaj-art-1b0efd5d90bf417fbe28874a74d88b4a |
| institution | Kabale University |
| issn | 1664-3224 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Immunology |
| spelling | doaj-art-1b0efd5d90bf417fbe28874a74d88b4a2025-08-20T03:28:04ZengFrontiers Media S.A.Frontiers in Immunology1664-32242025-07-011610.3389/fimmu.2025.16150751615075Response to two Janus kinase inhibitors in a boy with SAVI during 2-year follow-up: case report and literature reviewYiting Chen0Yiting Chen1Wenhe Zang2Haoyuan Zhong3Xianqin Deng4Wenting Zhong5Wenting Zhong6Lianyu Wang7Lianyu Wang8Xinying Chen9Xinying Chen10Xinying Chen11Department of Pediatrics, The Second Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangdong Provincial Hospital of Chinese Medicine, Guangzhou, ChinaYoujia Xu’s Famous Expert Inheritance Studio of Guangdong Provincial Hospital of Chinese Medicine, Guangzhou, ChinaDepartment of Radiology, The Second Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangdong Provincial Hospital of Chinese Medicine, Guangzhou, ChinaDepartment of Pediatrics, The Second Affiliated College of Guangzhou University of Chinese Medicine, Guangdong Provincial Hospital of Chinese Medicine, Guangzhou, ChinaDepartment of Radiology, The Second Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangdong Provincial Hospital of Chinese Medicine, Guangzhou, ChinaDepartment of Pediatrics, The Second Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangdong Provincial Hospital of Chinese Medicine, Guangzhou, ChinaMingzhao Du’s Inheritance Studio of Chinese Medicine of Guangdong Provincial Hospital of Chinese Medicine, Guangzhou, ChinaDepartment of Pediatrics, The Second Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangdong Provincial Hospital of Chinese Medicine, Guangzhou, ChinaZiyuan Wen’s Academic Inheritance Studio of Chinese Medicine of Guangdong Provincial Hospital of Chinese Medicine, Guangzhou, ChinaDepartment of Pediatrics, The Second Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangdong Provincial Hospital of Chinese Medicine, Guangzhou, ChinaYoujia Xu’s Famous Expert Inheritance Studio of Guangdong Provincial Hospital of Chinese Medicine, Guangzhou, ChinaZiyuan Wen’s Academic Inheritance Studio of Chinese Medicine of Guangdong Provincial Hospital of Chinese Medicine, Guangzhou, ChinaSTING-associated vasculopathy with onset in infancy (SAVI) represents an identified rare type I interferonopathy, triggered by gain-of-function mutations in the STING1 gene. It is characterized by early-onset systemic inflammation, cutaneous vasculopathy, pulmonary involvement, and recurrent bacterial infections. When conventional treatments prove ineffective in managing clinical symptoms, a high index of suspicion and prompt genetic testing become pivotal in considering the potential therapeutic role of Janus kinase (JAK) inhibitors, with ruxolitinib and tofacitinib emerging as promising treatment options. Here, we present a case involving a patient with severe lung manifestations of SAVI, treated initially with tofacitinib and later switched to ruxolitinib due to inadequate response. During a 24-month follow-up period, while symptoms stabilized under ruxolitinib, chest computed tomography (CT) scans revealed progressive changes. This case report offers valuable insights into the use of JAK inhibitors in a patient with SAVI. It illustrates the complexities of managing such cases and underscores the need for continued investigation into novel therapeutic approaches.https://www.frontiersin.org/articles/10.3389/fimmu.2025.1615075/fullinterstitial lung diseasepulmonary arterial hypertensiontype I interferonopathySTING1Janus kinase inhibitorsruxolitinib |
| spellingShingle | Yiting Chen Yiting Chen Wenhe Zang Haoyuan Zhong Xianqin Deng Wenting Zhong Wenting Zhong Lianyu Wang Lianyu Wang Xinying Chen Xinying Chen Xinying Chen Response to two Janus kinase inhibitors in a boy with SAVI during 2-year follow-up: case report and literature review Frontiers in Immunology interstitial lung disease pulmonary arterial hypertension type I interferonopathy STING1 Janus kinase inhibitors ruxolitinib |
| title | Response to two Janus kinase inhibitors in a boy with SAVI during 2-year follow-up: case report and literature review |
| title_full | Response to two Janus kinase inhibitors in a boy with SAVI during 2-year follow-up: case report and literature review |
| title_fullStr | Response to two Janus kinase inhibitors in a boy with SAVI during 2-year follow-up: case report and literature review |
| title_full_unstemmed | Response to two Janus kinase inhibitors in a boy with SAVI during 2-year follow-up: case report and literature review |
| title_short | Response to two Janus kinase inhibitors in a boy with SAVI during 2-year follow-up: case report and literature review |
| title_sort | response to two janus kinase inhibitors in a boy with savi during 2 year follow up case report and literature review |
| topic | interstitial lung disease pulmonary arterial hypertension type I interferonopathy STING1 Janus kinase inhibitors ruxolitinib |
| url | https://www.frontiersin.org/articles/10.3389/fimmu.2025.1615075/full |
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