Invited Speaker Oral Presentation Lorne Infection and Immunity 2023

Programmed cell death crosstalk in a monogenetic inflammatory disease (#3)

Sebastian Hughes 1 , Meng Lin 2 , Ashley Weir 1 , Bing Huang 2 , Liya Xiong 2 , Ngee-Kiat Chua 1 , Jiyi Pang 1 , Jascinta Santavanond 3 , Rochelle Tixeira 3 , Marcel Doerflinger 1 , Yexuan Deng 1 , Natasha Silke 1 , Stephanie Conos 4 , Daniel Frank 1 , Daniel Simpson 1 , James Murphy 1 , Kate Lawlor 4 , John Silke 1 , Marc Pellegrini 1 , Marco Herold 1 , Ivan Poon 3 , Seth Masters 1 , Mingsong Li 2 , Qing Tang 5 , Yuxia Zhang 2 , Maryam Rashidi 1 , Lanlan Geng 2 , James Vince 1
  1. Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia
  2. Department of Gastroenterology, Guangzhou Women and Children's Medical Center, Guangzhou, Guangdong, China
  3. Department of Biochemistry and Genetics, La Trobe University, Melbourne, Victoria, Australia
  4. Hudson Institute of Medical Research, Clayton, VIC, Australia
  5. The First Affiliated hospital of Guangxi Medical University, Nanning, Guangxi, China

Genetic lesions in X-linked Inhibitor of Apoptosis (XIAP) pre-dispose humans to cell death-associated diseases, including severe inflammatory bowel disease and the cytokine storm syndrome hemophagocytic lymphohistiocytosis. Here, we report that patients lacking XIAP can present with heightened levels of both apoptotic and pyroptotic cell death markers in diseased tissue. Using models of XIAP deficiency, we genetically show that only the combined deletion of several cell death modalities abrogates excess cell death and associated inflammasome-driven inflammatory IL-1β activation. Interestingly, our results also reveal that mitochondrial and death receptor apoptosis signalling trigger inflammasome responses via distinct mechanisms, despite both pathways converging of apoptotic caspase-3 and -7. These findings uncouple the mechanisms of cell death and inflammasome activation resulting from extrinsic and intrinsic apoptosis, reveal how XIAP loss can co-opt dual cell death programs, and uncover strategies for targeting the cell death and inflammatory pathways that result from XIAP deficiency.