• A Case of Familial Spondyloenchondrodysplasia with Immune Dysregulation Masquerading as Moyamoya Syndrome
• Autoimmune Hemolytic Anemia Due to Spondyloenchondrodysplasia with Spastic Paraparesis and Intracranial Calcification due to Mutation in ACP5
• Bilateral cochlear implants in a case of spondyloenchondrodysplasia with sensorineural hearing loss: Case report
• Case report: Refractory Evans syndrome in two patients with spondyloenchondrodysplasia with immune dysregulation treated successfully with JAK1/JAK2 inhibition
• Characterisation of ACP5 missense mutations encoding tartrate-resistant acid phosphatase associated with spondyloenchondrodysplasia
• Clinical characteristics of 25 patients with type Ⅰ interferonopathies
• Genetic disorders with symptoms mimicking rheumatologic diseases: A single-center retrospective study
• Janus Kinase Inhibitors in the Treatment of Type I Interferonopathies: A Case Series From a Single Center in China
• Letter regarding: "Bilateral cochlear implants in a case of spondyloenchondrodysplasia with sensorineural hearing loss: Case report"
• Monogenic lupus due to spondyloenchondrodysplasia with spastic paraparesis and intracranial calcification: case-based review
• Monogenic Lupus with IgA Nephropathy Caused by Spondyloenchondrodysplasia with Immune Dysregulation
• Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience
• Spondylenchondrodysplasia mimicking a systemic lupus erythematosus: A diagnostic challenge in a pediatric patient
• Spondyloenchondrodysplasia in five new patients: identification of three novel ACP5 variants with variable neurological presentations
• Spondyloenchondrodysplasia with immune dysregulation related to ACP5. A report of 4 cases
• Spondyloenchondrodysplasia With Immune Dysregulation, but Without Skeletal Dysplasia, in a Six-Year-Old Boy: A Case Report
• Spondyloenchondrodysplasia with immune dysregulation: Role of sirolimus
• Spondyloepimetaphyseal dysplasia EXTL3-deficient type: Long-term follow-up and review of the literature
• Successful treatment of spondyloenchondrodysplasia with baricitinib
• Toward a better understanding of type I interferonopathies: a brief summary, update and beyond