<h4>Introduction</h4>Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is a rare autosomal recessive disorder caused by biallelic variants in the <i>tartrate-resistant acid phosphatase 5</i> (<i>ACP5)</i> and characterized by variable skeletal, immunological, and neurological manifestations. This evidence concerns the gene ACP5 and Spondyloenchondrodysplasia with immune dysregulation.