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Mycobacterial Immune Reconstitution Inflammatory Syndrome in HIV is Associated With Protein-Altering Variants in Hemophagocytic Lymphohistiocytosis-Related Genes

  1. Author:
    Rocco, Joseph M [ORCID]
    Laidlaw, Elizabeth
    Galindo, Frances
    Anderson, Megan
    Sortino, Ornella
    Kuriakose,Safia
    Lisco, Andrea
    Manion, Maura [ORCID]
    Sereti, Irini

  2. Author Address

    National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA., Clinical Research Directorate, Frederick National Laboratory for Cancer Research, Bethesda, Maryland, USA.,
    1. Year: 2023
    2. Date: Apr 11
    3. Epub Date: 2023 04 11
  2. Journal: The Journal of Infectious Diseases
  4. Type of Article: Article
  1. 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. Published by Oxford University Press on behalf of Infectious Diseases Society of America 2023.

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External Sources

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  2. DOI: 10.1093/infdis/jiad059
  3. PMID: 37040388
  4. PII : 7114708

Library Notes

  1. Fiscal Year: FY2022-2023
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