Bone Abstracts

Background: Biallelic pathogenic variants in ACP5, encoding tartrate-resistant acid phosphatase (TRAP), result in the immuno-osseous disorder spondyloenchondrodysplasia (SPENCD), characterized by metaphyseal dysplasia and a variety of autoimmune phenotypes, particularly systemic lupus erythematosus (SLE). Importantly, patients with SPENCD demonstrate an upregulation of type 1 interferon (IFN) stimulated genes (ISGs) similar to that observed in SLE. Since very little i...