{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["9(2)"],"submitter":["Thomas K"],"funding":["Division of Intramural Research, National Institute of Allergy and Infectious Diseases"],"pubmed_abstract":["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 immunosupp"],"journal":["RMD open"],"pagination":["e003149"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10410970"],"repository":["biostudies-literature"],"pubmed_title":["NF-kappa-B essential modulator (NEMO) gene polymorphism in an adult woman with systemic lupus erythematosus and recurrent non-tuberculous mycobacterial disseminated infections."],"pmcid":["PMC10410970"],"pubmed_authors":["Niemela JE","Boumpas DT","Cheng A","Rosenzweig SD","Thomas K","Tziolos N","Tsioulos G","Banos A","Lionakis MS","DiMaggio T","Kotsogianni C","Holland S","Papadopoulos A"],"additional_accession":[]},"is_claimable":false,"name":"NF-kappa-B essential modulator (NEMO) gene polymorphism in an adult woman with systemic lupus erythematosus and recurrent non-tuberculous mycobacterial disseminated infections.","description":"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 immunosupp","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Jun","modification":"2026-06-08T06:37:47.41Z","creation":"2025-05-29T19:44:43.294Z"},"accession":"S-EPMC10410970","cross_references":{"pubmed":["37364928"],"doi":["10.1136/rmdopen-2023-003149"]}}