Systemic lupus erythematosus (SLE or lupus) is a complex autoimmune disease that can affect multiple organs. While the exact disease etiology remains incompletely understood, there is a suggested influence of X-chromosome dosage in the pathogenesis of lupus. Here, we report a rare case of a female patient diagnosed with mosaic Turner syndrome and subsequently presenting with juvenile-onset SLE. DNA methylation patterns were analyzed in this patient and compared with age-matched female SLE controls, revealing higher methylation levels in interferon-regulated genes previously shown to be hypomethylated in SLE. These data provide a potential link between a gene-dose effect from the X-chromosome and the lupus-defining epigenotype. We hypothesize that the attenuated demethylation in interferon-regulated genes might provide a protective effect explaining the rarity of SLE in Turner syndrome.
Keyphrases
- systemic lupus erythematosus
- genome wide
- dna methylation
- case report
- disease activity
- copy number
- rare case
- gene expression
- genome wide identification
- dendritic cells
- transcription factor
- multiple sclerosis
- growth hormone
- immune response
- big data
- genome wide analysis
- risk assessment
- electronic health record
- molecular dynamics
- data analysis
- deep learning