https://scholars.lib.ntu.edu.tw/handle/123456789/637666
標題: | NF-kappa-B essential modulator (NEMO) gene polymorphism in an adult woman with systemic lupus erythematosus and recurrent non-tuberculous mycobacterial disseminated infections | 作者: | Thomas, Konstantinos Tsioulos, Georgios Kotsogianni, Christina Banos, Agellos Niemela, Julie E ARISTINE CHENG DiMaggio, Tom Holland, Steven Rosenzweig, Sergio D Tziolos, Nikolaos Papadopoulos, Antonios Lionakis, Michail S Boumpas, Dimitrios T |
關鍵字: | Infections; Inflammation; Lupus Erythematosus, Systemic; Polymorphism, Genetic | 公開日期: | 六月-2023 | 卷: | 9 | 期: | 2 | 來源出版物: | RMD open | 摘要: | Infections are among the most serious complications in patients with systemic lupus erythematosus (SLE), with bacterial and viral infections being the most common. Non-tuberculous mycobacterial (NTM) infections are quite rare and are typically seen in older patients with SLE with longstanding disease duration treated with corticosteroids. Here, we describe a 39-year-old woman with SLE and an unusual pattern of recurrent NTM disseminated infections. After excluding the presence of autoantibodies against interferon-γ, whole exome sequencing revealed a homozygous polymorphism in the NF-kappa-B essential modulator (NEMO) gene. Primary immunodeficiencies should be included in the differential diagnosis of patients with recurrent opportunistic infections, even in those with iatrogenic immunosuppression. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/637666 | ISSN: | 2056-5933 | DOI: | 10.1136/rmdopen-2023-003149 |
顯示於: | 醫學系 |
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