Thomas, KonstantinosKonstantinosThomasTsioulos, GeorgiosGeorgiosTsioulosKotsogianni, ChristinaChristinaKotsogianniBanos, AgellosAgellosBanosNiemela, Julie EJulie ENiemelaARISTINE CHENGDiMaggio, TomTomDiMaggioHolland, StevenStevenHollandRosenzweig, Sergio DSergio DRosenzweigTziolos, NikolaosNikolaosTziolosPapadopoulos, AntoniosAntoniosPapadopoulosLionakis, Michail SMichail SLionakisBoumpas, Dimitrios TDimitrios TBoumpas2023-12-112023-12-112023-062056-5933https://scholars.lib.ntu.edu.tw/handle/123456789/637666Infections 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.enInfections; Inflammation; Lupus Erythematosus, Systemic; Polymorphism, GeneticNF-kappa-B essential modulator (NEMO) gene polymorphism in an adult woman with systemic lupus erythematosus and recurrent non-tuberculous mycobacterial disseminated infectionsjournal article10.1136/rmdopen-2023-003149373649282-s2.0-85163282728https://api.elsevier.com/content/abstract/scopus_id/85163282728