Fig. 2

XIAP whole gene deletion. a Depth of coverage of XIAP exons from whole exome sequencing data in the proband, his mother (green), a female control (blue) and a male control (purple). The red box indicates missing coverage for XIAP exons in the proband. b Copy number analysis of XIAP using ddPCR shows gene deletion in the proband compared to control males (purple) and females (blue). c Location of the XIAP whole gene deletion (bold) and previously reported XIAP mutations associated with IBD across the 6 coding exons of XIAP. *Exon numbers adjusted to reflect coding exons of XIAP