Identification of a Pathogenic Variant in TREX1 in Early-Onset Cerebral Systemic Lupus Erythematosus by Whole-Exome Sequencing
Ellyard, Julia; Jerjen, Rebekka; Martin, Jaime; Lee, Adrian; Field, Matthew; Jiang, Simon; Cappello, Jean; Naumann, Svenja; Andrews, Thomas Daniel; Scott, Hamish S; Casarotto, Marco; Goodnow, Christopher; Chaitow, Jeffrey; Pascual, Virginia; Hertzog, Paul; Alexander, Stephen; Cook, Matthew; Garcia De Vinuesa, Maria Carola
Objective Systemic lupus erythematosus (SLE) is a chronic and heterogeneous autoimmune disease. Both twin and sibling studies indicate a strong genetic contribution to lupus, but in the majority of cases the pathogenic variant remains to be identified. The genetic contribution to disease is likely to be greatest in cases with early onset and severe phenotypes. Whole-exome sequencing now offers the possibility of identifying rare alleles responsible for disease in such cases. This study was...[Show more]
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