PMID- 37040388 OWN - NLM STAT- MEDLINE DCOM- 20230720 LR - 20240206 IS - 1537-6613 (Electronic) IS - 0022-1899 (Print) IS - 0022-1899 (Linking) VI - 228 IP - 2 DP - 2023 Jul 14 TI - Mycobacterial Immune Reconstitution Inflammatory Syndrome in HIV is Associated With Protein-Altering Variants in Hemophagocytic Lymphohistiocytosis-Related Genes. PG - 111-115 LID - 10.1093/infdis/jiad059 [doi] AB - 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. CI - Published by Oxford University Press on behalf of Infectious Diseases Society of America 2023. FAU - Rocco, Joseph M AU - Rocco JM AUID- ORCID: 0000-0003-4307-4934 AD - National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA. FAU - Laidlaw, Elizabeth AU - Laidlaw E AD - National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA. FAU - Galindo, Frances AU - Galindo F AD - National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA. FAU - Anderson, Megan AU - Anderson M AD - National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA. FAU - Sortino, Ornella AU - Sortino O AD - National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA. FAU - Kuriakose, Safia AU - Kuriakose S AD - Clinical Research Directorate, Frederick National Laboratory for Cancer Research, Bethesda, Maryland, USA. FAU - Lisco, Andrea AU - Lisco A AD - National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA. FAU - Manion, Maura AU - Manion M AUID- ORCID: 0000-0003-0991-0011 AD - National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA. FAU - Sereti, Irini AU - Sereti I AD - National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA. LA - eng SI - ClinicalTrials.gov/NCT00286767 SI - ClinicalTrials.gov/NCT02147405 GR - NH/NIH HHS/United States GR - NH/NIH HHS/United States PT - Clinical Trial PT - Journal Article PT - Research Support, N.I.H., Intramural PL - United States TA - J Infect Dis JT - The Journal of infectious diseases JID - 0413675 SB - IM CIN - J Infect Dis. 2023 Jul 14;228(2):106-110. PMID: 37040572 MH - Humans MH - *HIV Infections/complications/drug therapy MH - *Immune Reconstitution Inflammatory Syndrome MH - *Lymphohistiocytosis, Hemophagocytic/genetics/complications MH - *Tuberculosis/complications/genetics/drug therapy PMC - PMC10345459 OTO - NOTNLM OT - genetics OT - hemophagocytic lymphohistiocytosis OT - immune reconstitution inflammatory syndrome OT - mycobacteria OT - tuberculosis COIS- Potential conflicts of interest. All authors: No reported conflicts of interest. All authors have submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest. Conflicts that the editors consider relevant to the content of the manuscript have been disclosed. EDAT- 2023/04/12 06:00 MHDA- 2023/07/17 06:42 PMCR- 2023/04/11 CRDT- 2023/04/11 13:35 PHST- 2022/11/29 00:00 [received] PHST- 2023/03/03 00:00 [accepted] PHST- 2023/07/17 06:42 [medline] PHST- 2023/04/12 06:00 [pubmed] PHST- 2023/04/11 13:35 [entrez] PHST- 2023/04/11 00:00 [pmc-release] AID - 7114708 [pii] AID - jiad059 [pii] AID - 10.1093/infdis/jiad059 [doi] PST - ppublish SO - J Infect Dis. 2023 Jul 14;228(2):111-115. doi: 10.1093/infdis/jiad059.