TNFRSF11A variants contribute to systemic autoinflammatory diseases: A case series of 12 patients.

Vasileios PapatheodorouCharalampos GerodimosAntonios DimitrakopoulosEfrosini LadaMaria G TektonidouAnastasios GermenisPetros P SfikakisKaterina Laskari

Published in: Seminars in arthritis and rheumatism (2024)

TNFRSF11A variants, occurring in 7% of SAID patients always in combination with other SAID-related gene variants, contribute to the development of an autoinflammatory syndrome resembling to TRAPS. Additional studies to confirm novel pathogenic SAID pathways are clearly warranted.

Keyphrases

end stage renal disease
copy number
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
prognostic factors
genome wide
dna methylation
patient reported