Disease: Spondyloenchondrodysplasia
- 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: 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