Interestingly, this patient did not show clinical manifestations of epiphyseal lesions of SPENCD and neurological dysfunction of AGS in addition to autoimmune disease, implying that complex protein functional alterations due to polymorphisms in the ACP5 and SAMHD1 genes lead to different clinical symptoms. The gene discussed is ACP5; the disease is Spondyloenchondrodysplasia with immune dysregulation.