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.
J Infect Dis. 2023 Jul 14;228(2):111-115. doi: 10.1093/infdis/jiad059.
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.
HIV(人免疫缺陷病毒)感染者和分枝杆菌感染者在开始抗逆转录病毒治疗后可能会发展为免疫重建炎症综合征(IRIS)。分枝杆菌-IRIS 的病理生理学与原发性噬血细胞性淋巴组织细胞增生症(pHLH)重叠。为了评估 IRIS 可能的遗传易感性,评估了 82 名发生 IRIS(n = 56)或未发生 IRIS(n = 26)的 HIV 感染者和分枝杆菌感染者中与 HLH 相关的基因中的蛋白改变变异体。与未发生 IRIS 的患者相比,IRIS 患者中有 23.2%的细胞毒性基因发生了蛋白改变变异体,而只有 3.8%的患者未发生 IRIS。这些发现表明 HIV 感染者中分枝杆菌 IRIS 的风险可能存在遗传因素。临床试验注册。NCT00286767,NCT02147405。