NF-kappa-B essential modulator (NEMO) gene polymorphism in an adult woman with systemic lupus erythematosus and recurrent non-tuberculous mycobacterial disseminated infections

Autor: Antonios Papadopoulos, Nikolaos Tziolos, Aristine Cheng, Georgios Tsioulos, Konstantinos Thomas, Christina Kotsogianni, Agellos Banos, Julie E. Niemela, Tom DiMaggio, Steven Holland, Sergio D. Rosenzweig, Michail S. Lionakis, Dimitrios T. Boumpas
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: RMD Open, Vol 9, Iss 2 (2023)
Druh dokumentu: article
ISSN: 2056-5933
DOI: 10.1136/rmdopen-2023-003149
Popis: 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.
Databáze: Directory of Open Access Journals