A case of VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome presenting as progressive multisystem involvement with parenchymal infiltrates following infection with Epstein Barr virus.

IF 0.8 Q4 RESPIRATORY SYSTEM
Respirology Case Reports Pub Date : 2024-10-10 eCollection Date: 2024-10-01 DOI:10.1002/rcr2.70037
Jelena Solujic, Phan Nguyen, Peter Bardy, Yao Ly, Emily Lawton
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引用次数: 0

Abstract

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic) syndrome is a rare multisystem disease affecting predominantly males over 50 and manifesting as widespread progressive inflammatory sequelae and haematological dysfunction. We describe a patient who presented with systemic symptoms of fevers, night sweats and weight loss, and developed progressive inflammatory sequelae including cutaneous lesions, haematological dysfunction, lymphadenopathy, migratory inflammatory arthropathies, with new pulmonary infiltrates, following infection with Epstein Barr Virus. Laboratory investigations, bronchoscopy, bone marrow biopsy and imaging were consistent with an inflammatory aetiology. The constellation of organ system involvement, laboratory, biopsy, and imaging results were suspicious for VEXAS syndrome, and this diagnosis was confirmed by identification of a somatic mutation in the UBA1 gene following extensive exclusion of infectious and autoimmune causes. Interestingly the onset of the VEXAS syndrome coincided with serological confirmation of Epstein Barr Virus raising the importance of further exploration into the underlying aetiology of VEXAS syndrome.

一例感染爱泼斯坦-巴氏病毒后表现为进行性多系统受累并伴有实质浸润的 VEXAS(空泡、E1 酶、X 连锁、自身炎症、体细胞)综合征。
VEXAS(空泡、E1酶、X-连锁、自身炎症和体质)综合征是一种罕见的多系统疾病,主要影响 50 岁以上的男性,表现为广泛的进行性炎症后遗症和血液学功能障碍。我们描述了一名患者的病例,该患者出现发热、盗汗和体重减轻等全身症状,在感染爱泼斯坦-巴氏病毒后出现进行性炎症后遗症,包括皮肤病变、血液学功能障碍、淋巴结病、移行性炎症性关节病,并伴有新的肺部浸润。实验室检查、支气管镜检查、骨髓活检和影像学检查结果均与炎症病因一致。器官系统受累、实验室检查、活检和影像学检查结果均可疑为 VEXAS 综合征,在广泛排除感染和自身免疫病因后,发现 UBA1 基因发生了体细胞突变,从而确诊了 VEXAS 综合征。有趣的是,VEXAS 综合征的发病时间与爱泼斯坦巴氏病毒血清学确诊时间相吻合,因此进一步探讨 VEXAS 综合征的潜在病因非常重要。
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来源期刊
Respirology Case Reports
Respirology Case Reports RESPIRATORY SYSTEM-
CiteScore
1.40
自引率
0.00%
发文量
178
审稿时长
8 weeks
期刊介绍: Respirology Case Reports is an open-access online journal dedicated to the publication of original clinical case reports, case series, clinical images and clinical videos in all fields of respiratory medicine. The Journal encourages the international exchange between clinicians and researchers of experiences in diagnosing and treating uncommon diseases or diseases with unusual presentations. All manuscripts are peer-reviewed through a streamlined process that aims at providing a rapid turnaround time from submission to publication.
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