The clinical manifestations of spondyloenchondrodysplasia with immune dysregulation (SPENCDI) associated with ACP5 mutations are similar to those of AGS in terms of neurological manifestations (spasticity, intracranial calcifications) as well as manifestations of autoimmunity (mimicking SLE) [62, 63]. The gene discussed is ACP5; the disease is Spondyloenchondrodysplasia with immune dysregulation.