In spondyloenchondrodysplasia (SPENCD), transmitted AR, due to mutations of ACP5 (encoding the tartrate-resistant acid phosphatase 5), skeletal deformity with short stature, platyspondyly, and enchondromas, including cranio-facial and hand deformities, are found along with immune dysregulation, including Sjogren syndrome, SLE and vasculitis features [92,93,94]. This evidence concerns the gene ACP5 and systemic lupus erythematosus.