Figure 1. XIAP deficiency in humans is associated with increased caspase‐8, GSDMD and IL‐1β activation.

• A
  Pedigrees of the XIAP‐deficient patients identified in this study.
• B, C
  PBMCs were stimulated with LPS (500 ng/ml) and after 24 h cell lysates and supernatants analysed by western blot (B) and ELISA (C), respectively. The mean of experimental duplicates (symbols) is shown (C).
• D, E
  Immunofluorescence staining showing activation of caspase‐8 and GSDMD in the colonic mucosae of XIAP‐deficient patients relative to healthy control colonic biopsies before and after early enteral nutrition (patient 1) or anti‐TNF and immune suppression (patient 2) therapies, with several images (symbols) quantified in panel E (mean ± SEM of caspase‐8 or GSDMD stained area relative to overall tissue staining (DAPI) analysed using ImageJ software. Caspase‐8 staining quantified from; n = 16 healthy control, n = 8 and 6 before therapy (patient 1 and 2, respectively) and n = 5 and 9 after therapy (patient 1 and 2, respectively) separate images. GSDMD staining quantified from; n = 10 healthy control, n = 7 and 6 before therapy (patient 1 and 2, respectively) and n = 8 and 8 after therapy (patient 1 and 2, respectively) separate images.

Source data are available online for this figure.