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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

Description

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]

CollectionsANU Research Publications
Date published: 2014
Type: Journal article
URI: http://hdl.handle.net/1885/36386
Source: Arthritis & Rheumatism
DOI: 10.1002/art.38824

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