Abstracts tagged "Rare variants"

Abstract Number: 2810 • 2019 ACR/ARP Annual Meeting
Does Loss-of-function Variants in SAT1 Cause X-linked Pediatric Lupus?
Ling-Xiao Xu ¹, Jian Zhao ², Qing Sun ², Lin-Yu Geng ², Yun Deng ², Diane Kamen ², Jim Oates ³, Prithvi Raj ⁴, Edward Wakeland ⁴, R.Hal Scofield ⁵, Joel Guthridge ⁶, Judith James ⁶, Deborah McCurdy ⁷ and Betty Tsao⁸, ¹Division of Rheumatology and Immunology, Department of Medicine, Medical University of South Carolina, Charleston, South Carolina, USA., Charelston, SC, ²Division of Rheumatology and Immunology, Department of Medicine, Medical University of South Carolina, Charleston, South Carolina, USA., Charleston, SC, ³Division of Rheumatology & Immunology/Medical University of South Carolina, Charleston, SC, ⁴Department of Immunology, University of Texas Southwestern Medical Center, Dallas, Texas, USA., Dallas, ⁵Arthritis & Clinical Immunology Research Program, Division of Genomics and Data Sciences, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA, Los Angeles, ⁶Oklahoma Medical Research Foundation, University of Oklahoma Health Sciences Center, Oklahoma City, OK, ⁷University of California, MDCC 12-430, 10833 Le Conte Ave, Los Angeles, 90095, CA, USA, Los Angeles, ⁸Division of Rheumatology and Immunology, Department of Medicine, Medical University of South Carolina, Charleston, South Carolina, USA., Charleston
Background/Purpose: Mendelian inheritances of highly penetrant single gene variants have been reported as monogenic forms of SLE. To explore novel risk variants, we carried out…

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