Kailong Lin, Yanqing Wang, Jiamin Song, Bing Li, Xu Wang, Jiale Tian, Yu Zeng, Muhammad Shahzad, Jianping Tang, Xuan Wang
{"title":"慢性乙型肝炎病毒感染伴VEXAS综合征1例报告及文献复习。","authors":"Kailong Lin, Yanqing Wang, Jiamin Song, Bing Li, Xu Wang, Jiale Tian, Yu Zeng, Muhammad Shahzad, Jianping Tang, Xuan Wang","doi":"10.1007/s12016-025-09101-x","DOIUrl":null,"url":null,"abstract":"<p><p>VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently identified late-onset, X-linked autoinflammatory disorder caused by somatic mutations in the ubiquitin-like modifier activating enzyme 1 (UBA1) gene, which impair ubiquitination and protein degradation pathways. VEXAS is characterized by multisystem involvement, overlapping clinical features with other inflammatory conditions and high mortality. Despite growing attention, our understanding of its pathophysiology, immune dysregulation, and optimal treatments remains limited. This report aims to explore the molecular pathogenesis, diagnostic criteria, and therapeutic approaches for VEXAS syndrome in the context of chronic hepatitis B virus (HBV) infection. A 68-year-old Chinese male patient presented with persistent fever, fatigue, arthritis, weight loss, and hematologic abnormalities (severe macrocytic anemia and thrombocytopenia). Genetic testing revealed a somatic UBA1 mutation (p.Met41Val, c.121A > G, 67.84%) in myeloid cells, confirming VEXAS syndrome. The patient also had chronic HBV infection with active viral replication. Treatment included antiviral therapy (entecavir) for HBV and a combination of corticosteroids and immunosuppressants for VEXAS syndrome. After a follow-up of 6 months, significant improvements were observed in clinical symptoms, hematologic parameters, and inflammatory markers. This case highlights the interplay between chronic HBV infection and VEXAS syndrome-mediated immune dysregulation. Integrated antiviral and immunosuppressive strategies are essential to manage VEXAS syndrome with chronic hepatitis B virus comorbidity. Future studies should focus on targeted therapies, such as JAK-STAT inhibitors and IL-6 blockade, to improve outcomes in patients with chronic viral infections and VEXAS syndrome.</p>","PeriodicalId":10423,"journal":{"name":"Clinical Reviews in Allergy & Immunology","volume":"68 1","pages":"88"},"PeriodicalIF":11.3000,"publicationDate":"2025-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Coexistence of VEXAS Syndrome and Chronic Hepatitis B Virus Infection: a Case Report and Literature Review.\",\"authors\":\"Kailong Lin, Yanqing Wang, Jiamin Song, Bing Li, Xu Wang, Jiale Tian, Yu Zeng, Muhammad Shahzad, Jianping Tang, Xuan Wang\",\"doi\":\"10.1007/s12016-025-09101-x\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently identified late-onset, X-linked autoinflammatory disorder caused by somatic mutations in the ubiquitin-like modifier activating enzyme 1 (UBA1) gene, which impair ubiquitination and protein degradation pathways. VEXAS is characterized by multisystem involvement, overlapping clinical features with other inflammatory conditions and high mortality. Despite growing attention, our understanding of its pathophysiology, immune dysregulation, and optimal treatments remains limited. This report aims to explore the molecular pathogenesis, diagnostic criteria, and therapeutic approaches for VEXAS syndrome in the context of chronic hepatitis B virus (HBV) infection. A 68-year-old Chinese male patient presented with persistent fever, fatigue, arthritis, weight loss, and hematologic abnormalities (severe macrocytic anemia and thrombocytopenia). Genetic testing revealed a somatic UBA1 mutation (p.Met41Val, c.121A > G, 67.84%) in myeloid cells, confirming VEXAS syndrome. The patient also had chronic HBV infection with active viral replication. Treatment included antiviral therapy (entecavir) for HBV and a combination of corticosteroids and immunosuppressants for VEXAS syndrome. After a follow-up of 6 months, significant improvements were observed in clinical symptoms, hematologic parameters, and inflammatory markers. This case highlights the interplay between chronic HBV infection and VEXAS syndrome-mediated immune dysregulation. Integrated antiviral and immunosuppressive strategies are essential to manage VEXAS syndrome with chronic hepatitis B virus comorbidity. Future studies should focus on targeted therapies, such as JAK-STAT inhibitors and IL-6 blockade, to improve outcomes in patients with chronic viral infections and VEXAS syndrome.</p>\",\"PeriodicalId\":10423,\"journal\":{\"name\":\"Clinical Reviews in Allergy & Immunology\",\"volume\":\"68 1\",\"pages\":\"88\"},\"PeriodicalIF\":11.3000,\"publicationDate\":\"2025-10-07\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Reviews in Allergy & Immunology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s12016-025-09101-x\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"ALLERGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Reviews in Allergy & Immunology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s12016-025-09101-x","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"ALLERGY","Score":null,"Total":0}
Coexistence of VEXAS Syndrome and Chronic Hepatitis B Virus Infection: a Case Report and Literature Review.
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently identified late-onset, X-linked autoinflammatory disorder caused by somatic mutations in the ubiquitin-like modifier activating enzyme 1 (UBA1) gene, which impair ubiquitination and protein degradation pathways. VEXAS is characterized by multisystem involvement, overlapping clinical features with other inflammatory conditions and high mortality. Despite growing attention, our understanding of its pathophysiology, immune dysregulation, and optimal treatments remains limited. This report aims to explore the molecular pathogenesis, diagnostic criteria, and therapeutic approaches for VEXAS syndrome in the context of chronic hepatitis B virus (HBV) infection. A 68-year-old Chinese male patient presented with persistent fever, fatigue, arthritis, weight loss, and hematologic abnormalities (severe macrocytic anemia and thrombocytopenia). Genetic testing revealed a somatic UBA1 mutation (p.Met41Val, c.121A > G, 67.84%) in myeloid cells, confirming VEXAS syndrome. The patient also had chronic HBV infection with active viral replication. Treatment included antiviral therapy (entecavir) for HBV and a combination of corticosteroids and immunosuppressants for VEXAS syndrome. After a follow-up of 6 months, significant improvements were observed in clinical symptoms, hematologic parameters, and inflammatory markers. This case highlights the interplay between chronic HBV infection and VEXAS syndrome-mediated immune dysregulation. Integrated antiviral and immunosuppressive strategies are essential to manage VEXAS syndrome with chronic hepatitis B virus comorbidity. Future studies should focus on targeted therapies, such as JAK-STAT inhibitors and IL-6 blockade, to improve outcomes in patients with chronic viral infections and VEXAS syndrome.
期刊介绍:
Clinical Reviews in Allergy & Immunology is a scholarly journal that focuses on the advancement of clinical management in allergic and immunologic diseases. The journal publishes both scholarly reviews and experimental papers that address the current state of managing these diseases, placing new data into perspective. Each issue of the journal is dedicated to a specific theme of critical importance to allergists and immunologists, aiming to provide a comprehensive understanding of the subject matter for a wide readership.
The journal is particularly helpful in explaining how novel data impacts clinical management, along with advancements such as standardized protocols for allergy skin testing and challenge procedures, as well as improved understanding of cell biology. Ultimately, the journal aims to contribute to the improvement of care and management for patients with immune-mediated diseases.