Panel sequencing links rare, likely damaging gene variants with distinct clinical phenotypes and outcomes in juvenile-onset SLE.
Amandine CharrasSam HaldenbyEve M D SmithNaomi EgbivwieLisa OlohanJohn G KennyKlaus SchwarzCarla RobertsEslam Al-AbadiKate ArmonKathryn BaileyCoziana CiurtinJanet Gardner-MedwinKirsty HaslamDaniel P HawleyAlice LeahyValentina LeoneFlora McErlaneGita ModgilClarissa PilkingtonAthimalaipet V RamananSatyapal RangarajPhil RileyArani SridharMichael W BeresfordChristian M Hedrichnull nullPublished in: Rheumatology (Oxford, England) (2022)
Approximately 3.5% of jSLE patients present damaging gene variants associated with younger age at onset, and distinct clinical features. As less commonly observed after treatment induction, in "genetic" SLE, autoantibody positivity may be the result of tissue damage and explain reduced immune complex-mediated renal and haematological involvement. Routine sequencing could allow for patient stratification, risk assessment, and target-directed treatment, thereby increasing efficacy and reducing toxicity.