Loss-of-function variants in SAT1 cause X-linked childhood-onset systemic lupus erythematosus.

Lingxiao XuJian ZhaoQing SunXue XuLei WangTing LiuYunjuan WuJingfeng ZhuLinyu GengYun DengAlexander AwgulewitschDiane L KamenJim C OatesPrithvi RajEdward K WakelandR Hal ScofieldJoel M GuthridgeJudith A JamesBevra H HahnDeborah K McCurdyFang WangMiaojia ZhangWenfeng TanGary S GilkesonBetty P Tsao

Published in: Annals of the rheumatic diseases (2022)

LOF variants as new monogenic causes for SLE.

Keyphrases

systemic lupus erythematosus
copy number
disease activity
rheumatoid arthritis
early life
dna methylation
gene expression
genome wide
young adults