Panel sequencing links rare, likely damaging gene variants with distinct clinical phenotypes and outcomes in juvenile-onset SLE.

doi:10.1093/rheumatology/keac275

Article

Panel sequencing links rare, likely damaging gene variants with distinct clinical phenotypes and outcomes in juvenile-onset SLE.

Rheumatology (Oxford, England) - 23 Feb 2023

Charras Amandine, Haldenby Sam, Smith Eve M D, Egbivwie Naomi, Olohan Lisa, Kenny John G, Schwarz Klaus, Roberts Carla, Al-Abadi Eslam, Armon Kate, Bailey Kathryn, Ciurtin Coziana, Gardner-Medwin Janet, Haslam Kirsty, Hawley Daniel P, Leahy Alice, Leone Valentina, McErlane Flora, Modgil Gita, Pilkington Clarissa, Ramanan Athimalaipet V, Rangaraj Satyapal, Riley Phil, Sridhar Arani, Beresford Michael W, Hedrich Christian M

Abstract excerpt

OBJECTIVES: Juvenile-onset systemic lupus erythematosus (jSLE) affects 15-20% of lupus patients. Clinical heterogeneity between racial groups, age groups and individual patients suggests variable pathophysiology. This study aimed to identify highly penetrant damaging mutations in genes associated with SLE/SLE-like disease in a large national cohort (UK JSLE Cohort Study) and compare demographic, clinical and...

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Panel sequencing links rare, likely damaging gene variants with distinct clinical phenotypes and outcomes in juvenile-onset SLE.

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