{"doi":"10.1093/infdis/jiad059","title":"Mycobacterial Immune Reconstitution Inflammatory Syndrome in HIV is Associated With Protein-Altering Variants in Hemophagocytic Lymphohistiocytosis-Related Genes","abstract":"People with HIV (PWH) and mycobacterial infections can develop immune reconstitution inflammatory syndrome (IRIS) after starting antiretroviral therapy. The pathophysiology of mycobacterial-IRIS overlaps with primary hemophagocytic lymphohistiocytosis (pHLH). To assess possible genetic predisposition to IRIS, protein-altering variants in genes associated with HLH were evaluated in 82 PWH and mycobacterial infections who developed IRIS (n = 56) or did not develop IRIS (n = 26). Protein-altering variants in cytotoxicity genes were found in 23.2% of IRIS patients compared to only 3.8% of those without IRIS. These findings suggest a possible genetic component in the risk of mycobacterial IRIS in PWH. Clinical Trials Registration. NCT00286767, NCT02147405.","journal":"The Journal of Infectious Diseases","year":2023,"id":336129,"datarank":0.9812003170740683,"base_score":2.995732273553991,"endowment":2.995732273553991,"self_citation_contribution":0.4493598410330987,"citation_network_contribution":0.5318404760409696,"self_endowment_contribution":0.4493598410330987,"citer_contribution":0.5318404760409696,"corpus_percentile":null,"corpus_rank":null,"citation_count":19,"citer_count":15,"citers_with_citation_signal":12,"citers_with_endowment":12,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9632,"is_data_producer":true,"deposit_databanks":{"ClinicalTrials.gov":["NCT00286767","NCT02147405"]},"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":342096,"name":"Elizabeth Laidlaw","orcid":"0000-0001-8241-6859","position":1,"is_corresponding":false},{"id":727841,"name":"Frances Galindo","orcid":null,"position":2,"is_corresponding":false},{"id":343335,"name":"Megan Anderson","orcid":null,"position":3,"is_corresponding":false},{"id":243898,"name":"Ornella Sortino","orcid":null,"position":4,"is_corresponding":false},{"id":436373,"name":"Safia Kuriakose","orcid":"0009-0001-4076-6276","position":5,"is_corresponding":false},{"id":332535,"name":"Andrea Lisco","orcid":"0000-0002-1475-356X","position":6,"is_corresponding":false},{"id":431963,"name":"Maura Manion","orcid":"0000-0003-0991-0011","position":7,"is_corresponding":false},{"id":241760,"name":"Irini Sereti","orcid":"0000-0002-0076-0224","position":8,"is_corresponding":false},{"id":529097,"name":"Joseph M. Rocco","orcid":"0000-0003-4307-4934","position":0,"is_corresponding":true}],"reference_count":16,"raw_metadata":null,"created_at":"2026-07-19T01:10:17.243221Z","pmid":"37040388","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":[]}