Janus kinase inhibitor therapy for the treatment of spondyloenchondrodysplasia with immune dysregulation due to novel ACP5 variants: a multicenter study
BackgroundSpondyloenchondrodysplasia with immune dysregulation (SPENCD) is a rare autosomal recessive disorder caused by biallelic ACP5 mutations and is characterized by skeletal dysplasia, neurological involvement, and immune dysregulation. According …