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Last Updated: 10/31/2025
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Found 68 publications
Spondyloenchondrodysplasia: An enigmatic immuno-osseus type I interferonopathy.
Journal: Journal of human immunity
Published: October 06, 2025
Genetic Diseases Mimicking Rheumatic Disorders: Insights From Southeastern Turkey.
Journal: American journal of medical genetics. Part A
Published: April 18, 2025
Case Report: Successful treatment of spondyloenchondrodysplasia with immune dysregulation using tofacitinib and ruxolitinib: a report of two pediatric cases.
Journal: Frontiers in pharmacology
Published: March 24, 2025
Spondyloenchondrodysplasia with immune dysregulation: an under-the-radar cause of spasticity.
Journal: Journal of Yeungnam medical science
Published: March 08, 2025
Clinical, laboratory, and molecular characteristics of patients with spondyloenchondrodysplasia: a case series study.
Journal: European journal of pediatrics
Published: October 07, 2024
Letter regarding: "Bilateral cochlear implants in a case of spondyloenchondrodysplasia with sensorineural hearing loss: Case report".
Journal: International journal of surgery case reports
Published: January 24, 2024
Pharmacokinetics of Baricitinib in Cerebrospinal Fluid and Plasma in a Patient with SPENCD.
Journal: Journal of clinical immunology
Published: January 17, 2024
Case report: Refractory Evans syndrome in two patients with spondyloenchondrodysplasia with immune dysregulation treated successfully with JAK1/JAK2 inhibition.
Journal: Frontiers in immunology
Published: October 25, 2023
Bilateral cochlear implants in a case of spondyloenchondrodysplasia with sensorineural hearing loss: Case report.
Journal: International journal of surgery case reports
Published: September 05, 2023
Last Updated: 10/31/2025