Fig. 1: Reported CASP10 variants and family pedigrees of included subjects.

A Structure of (Pro)Caspase-10 and variants previously reported in literature. In bold are variants displayed by the enrolled subjects. CASc domain has two parts (p23/p17: residues 220–414 and p12: residues 415–522). C401 (central residue of the QACQG catalytic site) is highlighted in red. B Pedigrees of the six included individuals belonging to four different families. Subjects in gray have no clinical manifestations. L linker domains, DED1-2 Death Effector Domains, CASc Caspase proteolytic domain, S subject. This figure was created with Biorender.com and exported under a paid subscription.