ACP5 and Spondyloenchondrodysplasia with immune dysregulation: This has particularly been reported in spondyloenchondrodysplasia with immune dysregulation (SPENCDI), a rare immuno-osseous dysplasia caused by biallelic mutations in the ACP5 gene (72) and Stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI) that includes heterozygous mutations in TMEM173 (78).