<h4>Background</h4>Spondyloenchondrodysplasia with immune dysregulation (SPENCD) is a rare autosomal recessive disorder caused by biallelic <i>ACP5</i> mutations and is characterized by skeletal dysplasia, neurological involvement, and immune dysregulation. This evidence concerns the gene ACP5 and Spondyloenchondrodysplasia with immune dysregulation.