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Clinical Trial
. 2023 Jul 14;228(2):111-115.
doi: 10.1093/infdis/jiad059.

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

Joseph M Rocco  1 , Elizabeth Laidlaw  1 , Frances Galindo  1 , Megan Anderson  1 , Ornella Sortino  1 , Safia Kuriakose  2 , Andrea Lisco  1 , Maura Manion  1 , Irini Sereti  1
Affiliations
Clinical Trial

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

Joseph M Rocco et al. J Infect Dis. .

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.

Keywords: genetics; hemophagocytic lymphohistiocytosis; immune reconstitution inflammatory syndrome; mycobacteria; tuberculosis.

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Conflict of interest statement

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.

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