Shojaee Farzaneh, Azadian Esmaeel, Wong Min Xian, Ma Xiuquan, Rickard James, Pang Jiyi, Hall Catherine, Kueh Andrew J, Masters Seth L, Rioja Inmaculada, Prinjha Rab K, Doerflinger Marcel, Lawlor Kate E, Rashidi Maryam, Vince James E
The Walter and Eliza Hall Institute of Medical Research, Parkville 3052, Australia.
Department of Medical Biology, University of Melbourne, Parkville 3010, Australia.
Sci Adv. 2025 Jul 11;11(28):eadv0079. doi: 10.1126/sciadv.adv0079. Epub 2025 Jul 9.
Hemophagocytic lymphohistiocytosis (HLH) is a potentially fatal cytokine storm syndrome. Its high mortality rate reflects limited therapeutic options and a poor understanding of disease-causing signaling. We show that the NLRP3 inflammasome is responsible for increased mortality in a model of secondary HLH (sHLH). Unexpectedly, neither deletion of the NLRP3-activated pyroptotic effector GSDMD nor combined deletion of the inflammasome-activated cytokines interleukin-1β (IL-1β) and IL-18 conferred strong protection from sHLH. Instead, co-deletion of GSDMD and caspase-8-activated GSDME limited sHLH-driven lethality, demonstrating redundancy in the pyroptotic machinery required to induce sHLH. We also found that bromodomain and extraterminal domain (BET) inhibitors prevent NLRP3-driven pyroptosis, which acted by blocking inflammasome priming. BET inhibitors prevented increased NLRP3 levels in diseased tissue, limited the production of sHLH-associated IL-1β, interferon-γ, and tumor necrosis factor, and protected from sHLH pathogenesis. These findings suggest that targeting NLRP3 could limit sHLH and identify clinically relevant bromodomain-selective BET inhibitors capable of eliminating NLRP3-driven pyroptosis and the sHLH cytokine storm.
噬血细胞性淋巴组织细胞增生症(HLH)是一种潜在致命的细胞因子风暴综合征。其高死亡率反映出治疗选择有限以及对致病信号的了解不足。我们发现NLRP3炎性小体在继发性HLH(sHLH)模型中导致死亡率增加。出乎意料的是,NLRP3激活的焦亡效应蛋白GSDMD的缺失以及炎性小体激活的细胞因子白细胞介素-1β(IL-1β)和白细胞介素-18的联合缺失均未对sHLH提供强有力的保护。相反,GSDMD和半胱天冬酶-8激活的GSDME的共同缺失限制了sHLH驱动的致死率,表明诱导sHLH所需的焦亡机制存在冗余。我们还发现,溴结构域和额外末端结构域(BET)抑制剂可预防NLRP3驱动的焦亡,其作用机制是阻断炎性小体的启动。BET抑制剂可防止患病组织中NLRP3水平升高,限制sHLH相关的IL-1β、干扰素-γ和肿瘤坏死因子的产生,并预防sHLH发病机制。这些发现表明,靶向NLRP3可限制sHLH,并确定能够消除NLRP3驱动的焦亡和sHLH细胞因子风暴的临床相关溴结构域选择性BET抑制剂。