Article
A rare case of late-onset spondyloenchondrodysplasia with immune dysregulation presenting as adult-onset monogenic lupus.
Lupus - 1 Jan 2025
Firat Senturk Esra, Ayvaz Bilal Berke, Firtina Sinem, Ugurlu Serdal
Abstract excerpt
BACKGROUND: Spondyloenchondrodysplasia is classified as an interferonopathy resulting from recessive mutations in the ACP5 gene and manifests with various clinical features, including distinctive skeletal dysplasia, neurological abnormalities, immune dysfunction resembling systemic lupus erythematosus (SLE) and Sjogren's syndrome. While SLE is typically considered multifactorial and more prevalent in adulthood, a...
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