NF-kappa-B essential modulator (NEMO) gene polymorphism in an adult woman with systemic lupus erythematosus and recurrent non-tuberculous mycobacterial disseminated infections.
In: RMD open, Jg. 9 (2023-06-01), Heft 2
academicJournal
Zugriff:
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.
Competing Interests: Competing interests: None declared.
(© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)
| Titel: |
NF-kappa-B essential modulator (NEMO) gene polymorphism in an adult woman with systemic lupus erythematosus and recurrent non-tuberculous mycobacterial disseminated infections.
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| Autor/in / Beteiligte Person: | Thomas, K ; Tsioulos, G ; Kotsogianni, C ; Banos, A ; Niemela, JE ; Cheng, A ; DiMaggio, T ; Holland, S ; Rosenzweig, SD ; Tziolos, N ; Papadopoulos, A ; Lionakis, MS ; Boumpas, DT |
| Zeitschrift: | RMD open, Jg. 9 (2023-06-01), Heft 2 |
| Veröffentlichung: | London : BMJ Publishing Group, [2015]-, 2023 |
| Medientyp: | academicJournal |
| ISSN: | 2056-5933 (electronic) |
| DOI: | 10.1136/rmdopen-2023-003149 |
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