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

Joseph M. Rocco; Elizabeth Laidlaw; Frances Galindo; Megan Anderson; Ornella Sortino; Safia Kuriakose; Andrea Lisco; Maura Manion; Irini Sereti

doi:https://doi.org/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, Elizabeth Laidlaw, Frances Galindo, Megan Anderson, Ornella Sortino, Safia Kuriakose, Andrea Lisco, Maura Manion, Irini Sereti

Research output: Contribution to journal › Article › Academic › peer-review

7 Citations (Scopus)

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.

Original language	English
Pages (from-to)	111-115
Number of pages	5
Journal	Journal of infectious diseases
Volume	228
Issue number	2
DOIs	https://doi.org/10.1093/infdis/jiad059
Publication status	Published - 15 Jul 2023
Externally published	Yes

Keywords

genetics
hemophagocytic lymphohistiocytosis
immune reconstitution inflammatory syndrome
mycobacteria
tuberculosis

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https://doi.org/10.1093/infdis/jiad059

Cite this

Rocco, J. M., Laidlaw, E., Galindo, F., Anderson, M., Sortino, O., Kuriakose, S., Lisco, A., Manion, M., & Sereti, I. (2023). Mycobacterial Immune Reconstitution Inflammatory Syndrome in HIV is Associated With Protein-Altering Variants in Hemophagocytic Lymphohistiocytosis-Related Genes. Journal of infectious diseases, 228(2), 111-115. https://doi.org/10.1093/infdis/jiad059

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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.",

keywords = "genetics, hemophagocytic lymphohistiocytosis, immune reconstitution inflammatory syndrome, mycobacteria, tuberculosis",

author = "Rocco, {Joseph M.} and Elizabeth Laidlaw and Frances Galindo and Megan Anderson and Ornella Sortino and Safia Kuriakose and Andrea Lisco and Maura Manion and Irini Sereti",

note = "Funding Information: Financial support. This work was supported in part by the Division of Intramural Research program of the National Institute of Allergy and Infectious Diseases, National Institutes of Health. Publisher Copyright: {\textcopyright} 2023 Published by Oxford University Press on behalf of Infectious Diseases Society of America.",

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Rocco, JM, Laidlaw, E, Galindo, F, Anderson, M, Sortino, O, Kuriakose, S, Lisco, A, Manion, M & Sereti, I 2023, 'Mycobacterial Immune Reconstitution Inflammatory Syndrome in HIV is Associated With Protein-Altering Variants in Hemophagocytic Lymphohistiocytosis-Related Genes', Journal of infectious diseases, vol. 228, no. 2, pp. 111-115. https://doi.org/10.1093/infdis/jiad059

Mycobacterial Immune Reconstitution Inflammatory Syndrome in HIV is Associated With Protein-Altering Variants in Hemophagocytic Lymphohistiocytosis-Related Genes. / Rocco, Joseph M.; Laidlaw, Elizabeth; Galindo, Frances et al.
In: Journal of infectious diseases, Vol. 228, No. 2, 15.07.2023, p. 111-115.

Research output: Contribution to journal › Article › Academic › peer-review

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T1 - Mycobacterial Immune Reconstitution Inflammatory Syndrome in HIV is Associated With Protein-Altering Variants in Hemophagocytic Lymphohistiocytosis-Related Genes

AU - Rocco, Joseph M.

AU - Laidlaw, Elizabeth

AU - Galindo, Frances

AU - Anderson, Megan

AU - Sortino, Ornella

AU - Kuriakose, Safia

AU - Lisco, Andrea

AU - Manion, Maura

AU - Sereti, Irini

N1 - Funding Information: Financial support. This work was supported in part by the Division of Intramural Research program of the National Institute of Allergy and Infectious Diseases, National Institutes of Health. Publisher Copyright: © 2023 Published by Oxford University Press on behalf of Infectious Diseases Society of America.

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Y1 - 2023/7/15

N2 - 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.

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.

KW - genetics

KW - hemophagocytic lymphohistiocytosis

KW - immune reconstitution inflammatory syndrome

KW - mycobacteria

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ER -

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

Abstract

Keywords

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