Janus kinase inhibitor therapy for the treatment of spondyloenchondrodysplasia with immune dysregulation due to novel ACP5 variants: a multicenter study

Background: mutations and is characterized by skeletal dysplasia, neurological involvement, and immune dysregulation. According to the latest International Union of Immunological Societies (IUIS) classification, SPENCD is categorized as an inborn error of immunity within the autoinflammatory disorders spectrum; however, targeted therapeutic strategies for immune manifestations remain limited. Methods: variants across the five patients, including four novel variants. The diagnosis of SPENCD was established based on the genetic findings in combination with characteristic clinical features and radiological manifestations. Three patients received treatment with Janus kinase (JAK) inhibitors. In one representative treated patient (Patient 1), immunological parameters before and after treatment were evaluated using flow cytometry and quantitative PCR. Results: B cells and changes in T helper cell subsets. Conclusion: mutations and provides clinical and immunological observations suggesting JAK inhibitor therapy may be considered for immune dysregulation in patients with SPENCD.