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病例报告:TAP1 缺陷成人中与风疹病毒相关的皮肤肉芽肿。

Case report: Rubella virus-associated cutaneous granuloma in an adult with TAP1 deficiency.

机构信息

Department of Dermatology and Venereology, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong, China.

Vision Medicals Co., Ltd., Guangzhou, Guangdong, China.

出版信息

Front Immunol. 2024 Apr 12;15:1366840. doi: 10.3389/fimmu.2024.1366840. eCollection 2024.

Abstract

Rubella virus-associated granulomas commonly occur in immunocompromised individuals, exhibiting a diverse range of clinical presentations. These manifestations can vary from predominantly superficial cutaneous plaques or nonulcerative nodules to more severe deep ulcerative lesions, often accompanied by extensive necrosis and significant tissue destruction. TAP1 deficiency, an exceedingly rare primary immune-deficiency disorder, presents with severe chronic sino-pulmonary infection and cutaneous granulomas. This report highlights the occurrence of rubella virus-associated cutaneous granulomas in patients with TAP1 deficiency. Notably, the pathogenic mutation responsible for TAP1 deficiency stems from a novel genetic alteration that has not been previously reported. This novel observation holds potential significance for the field of diagnosis and investigative efforts in the context of immunodeficiency disorders.

摘要

风疹病毒相关性肉芽肿在免疫功能低下者中常见,表现出多种不同的临床表现。这些表现形式可以从主要的浅表性皮肤斑块或非溃疡性结节到更严重的深部溃疡性病变不等,常伴有广泛的坏死和显著的组织破坏。TAP1 缺陷是一种极其罕见的原发性免疫缺陷病,表现为严重的慢性鼻窦-肺部感染和皮肤肉芽肿。本报告强调了 TAP1 缺陷患者中与风疹病毒相关的皮肤肉芽肿的发生。值得注意的是,导致 TAP1 缺陷的致病突变源于一种以前未报道过的新型遗传改变。这一新颖的观察结果对于免疫缺陷疾病的诊断和研究领域具有重要意义。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f273/11045939/3a67ff0084bc/fimmu-15-1366840-g001.jpg

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