{"doi":"10.1136/rmdopen-2023-003149","title":"NF-kappa-B essential modulator (NEMO) gene polymorphism in an adult woman with systemic lupus erythematosus and recurrent non-tuberculous mycobacterial disseminated infections","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 immunosuppression.","journal":"RMD Open","year":2023,"id":388429,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":1,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9547,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2023-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":119983,"name":"Georgios Tsioulos","orcid":null,"position":1,"is_corresponding":false},{"id":1158384,"name":"Christina Kotsogianni","orcid":null,"position":2,"is_corresponding":false},{"id":469733,"name":"Aggelos Banos","orcid":"0000-0002-5647-6505","position":3,"is_corresponding":false},{"id":325548,"name":"Julie E. Niemela","orcid":"0000-0003-4197-3792","position":4,"is_corresponding":false},{"id":671953,"name":"Aristine Cheng","orcid":"0000-0002-1182-7375","position":5,"is_corresponding":false},{"id":243951,"name":"Tom DiMaggio","orcid":null,"position":6,"is_corresponding":false},{"id":104227,"name":"Steven M. Holland","orcid":"0000-0003-3207-5464","position":7,"is_corresponding":false},{"id":246526,"name":"Sergio D. Rosenzweig","orcid":"0000-0002-5550-9678","position":8,"is_corresponding":false},{"id":1157976,"name":"Nikolaos Tziolos","orcid":"0000-0001-5494-2042","position":9,"is_corresponding":false},{"id":1157977,"name":"Antonios Papadopoulos","orcid":"0000-0003-4735-2620","position":10,"is_corresponding":false},{"id":104225,"name":"Michail S. Lionakis","orcid":"0000-0003-4994-9500","position":11,"is_corresponding":false},{"id":18419,"name":"Dimitrios T. Boumpas","orcid":"0000-0002-9812-4671","position":12,"is_corresponding":false},{"id":1157975,"name":"Κonstantinos Thomas","orcid":"0000-0002-7489-7776","position":0,"is_corresponding":true}],"reference_count":27,"raw_metadata":null,"created_at":"2026-07-19T01:18:18.214733Z","pmid":"37364928","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}