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Functional evaluation of rare OASL variants by analysis of SLE patient-derived iPSCs.
J Autoimmun
September 2023
Department of Allergy and Rheumatology, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo, 113-8654, Japan. Electronic address:
Background: Systemic lupus erythematosus (SLE) is a chronic systemic autoimmune disease characterized by genetic heterogeneity and an interferon (IFN) signature. The overall landscapes of the heritability of SLE remains unclear.
Objectives: To identify and elucidate the biological functions of rare variants underlying SLE, we conducted analyses of patient-derived induced pluripotent stem cells (iPSCs) in combination with genetic analysis.
Germline genetic patterns underlying familial rheumatoid arthritis, systemic lupus erythematosus and primary Sjögren's syndrome highlight T cell-initiated autoimmunity.
Ann Rheum Dis
February 2020
Department of Experimental and Clinical Medicine, University of Florence & Department of Geriatric Medicine, Division of Rheumatology AOUC, Florence, Italy.
Objectives: Familial aggregation of primary Sjögren's syndrome (pSS), systemic lupus erythematosus (SLE), rheumatoid arthritis (RA) and co-aggregation of these autoimmune diseases (ADs) (also called familial autoimmunity) is well recognised. However, the genetic predisposition variants that explain this clustering remains poorly defined.
Methods: We used whole-exome sequencing on 31 families (9 pSS, 11 SLE, 6 RA and 5 mixed autoimmunity), followed by heterozygous filtering and cosegregation analysis of a family-focused approach to document rare variants predicted to be pathogenic by analysis.
Outcome of adult Saudi patients with childhood-onset systemic lupus erythematosus.
Clin Exp Rheumatol
March 2015
Adult Rheumatology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Objectives: We aimed to describe the social, educational, employment and long-term clinical outcomes of adults with childhood-onset systemic lupus erythematosus (SLE) in a Saudi cohort.
Methods: All adult patients with childhood-onset SLE who were treated and had regular follow-up between 1990 and 2013 at King Faisal Specialist Hospital and Research Centre (KFSH-RC), Riyadh were included. The long-term outcome measures comprised SLE Disease Activity and Damage Indices at the last follow-up visit and death related to SLE.
Long-term follow-up in 128 patients with primary antiphospholipid syndrome: do they develop lupus?
Medicine (Baltimore)
July 2005
From Lupus Research Unit (JAGP, HM, MJC, GRVH, MAK), Rayne Institute, St Thomas' Hospital, London, United Kingdom; Hospital Clinic, (JAGP), Barcelona; Fundación Hospital Alcorcón (HM), Madrid; Hospital Reina Sofía (MAA), Córdoba; Hospital Regional Universitario Carlos Haya (MTC), Málaga, Spain and Instituto Nacional de Cardiología Ignacio Chávez (MCA), Mexico City, Mexico.
We retrospectively studied a large cohort of patients with primary antiphospholipid syndrome (APS) from 4 different referral centers to analyze the clinical and serologic features and, specifically, to determine the number of patients going on to develop systemic lupus erythematosus (SLE) or other autoimmune disease after long-term follow-up. The study included 128 unselected patients with primary APS who fulfilled the Sapporo International Criteria from 4 different tertiary hospitals in the United Kingdom, Mexico, and Spain. The patients had attended the referral centers between January 1987 and July 2001.
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