TableĀ 1

Summary of identified XIAP variants

Nucleotide sequenceExon locationProtein sequenceGenderZygosityIBD typeAge at disease onset (years)
Patient 1c.295G>T2E99XMaleHemizygousCD0.75
Patient 2c.115G>T2G39CMaleHemizygousCD13
Patient 3c.890A>C3K297TMaleHemizygousCD15
Patient 4c.968G>A3W323XMaleHemizygousCD16