To date, 30 cases of SPENCD with SLE have been reported in the literature (23, 25–35) (Figure 2A; Table 2), and 9 cases of SLE with SAMHD1 mutations have been reported in the literature (21, 36–41) (Figure 2B; Table 3), including the patients in this article. This evidence concerns the gene SAMHD1 and Spondyloenchondrodysplasia with immune dysregulation.