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 pred...

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Bibliographic Details
Published in:The Journal of infectious diseases 2023-07, Vol.228 (2), p.111-115
Main Authors: Rocco, Joseph M, Laidlaw, Elizabeth, Galindo, Frances, Anderson, Megan, Sortino, Ornella, Kuriakose, Safia, Lisco, Andrea, Manion, Maura, Sereti, Irini
Format: Article
Language:English
Subjects:
Antiretroviral therapy
Brief Report
Clinical trials
Cytotoxicity
Histiocytosis
HIV
HIV Infections - complications
HIV Infections - drug therapy
Human immunodeficiency virus
Humans
Immune reconstitution
Immune Reconstitution Inflammatory Syndrome
Inflammation
Lymphocytosis
Lymphohistiocytosis, Hemophagocytic - complications
Lymphohistiocytosis, Hemophagocytic - genetics
Tuberculosis - complications
Tuberculosis - drug therapy
Tuberculosis - genetics
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Summary: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. People with HIV and mycobacterial infections are at risk for immune reconstitution inflammatory syndrome (IRIS). The pathophysiology of mycobacterial-IRIS overlaps with hemophagocytic lymphohistiocytosis (HLH). Heterozygous, protein-altering variants in HLH-associated genes may impact risk of mycobacterial-IRIS in those starting antiretroviral therapy.
ISSN:0022-1899
1537-6613
DOI:10.1093/infdis/jiad059