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Murine LRBA deficiency causes CTLA-4 deficiency in Tregs without progression to immunune dysregulation

Burnett, Deborah L.; Parish, Ian; Masle-Farquhar, Etienne; Brink, Robert; Goodnow, Christopher C.

Description

Inherited mutations in lipopolysaccharide-responsive beige-like anchor (LRBA) cause a recessive human immune dysregulation syndrome with memory B-cell and antibody deficiency (common variable immunodeficiency), inflammatory bowel disease, enlarged spleen and lymph nodes, accumulation of activated T cells and multiple autoimmune diseases. To understand the pathogenesis of the syndrome, C57BL/6 mice carrying a homozygous truncating mutation in Lrba were produced using CRISPR/Cas9-mediated gene...[Show more]

CollectionsANU Research Publications
Date published: 2017
Type: Journal article
URI: http://hdl.handle.net/1885/243982
Source: Immunology and Cell Biology
DOI: 10.1038/icb.2017.50
Access Rights: Open Access

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