Variants in genes can cause autoimmune diseases. For example, variants in the LRBA gene can affect the LRBA protein it encodes. This protein is found inside some of the body’s immune cells, particularly T regulatory cells.
The LRBA protein's job is to protect another protein, CTLA-4, so that CTLA-4 can build up on the outside of the cell. These CTLA-4 molecules act as an important brake on the immune system, stopping it from becoming overactive.
Variants in the LRBA gene mean that the LRBA protein cannot protect CTLA-4 properly, meaning that it may not be present on the outside of the T cell. With this important brake mechanism missing, the immune system goes 'rogue', attacking normal body tissues, and potentially causing autoimmune disease.
Read Alan's story to follow a young boy's life-changing diagnosis of LRBA deficiency through genome sequencing.
Tags: video, DNA, gene, protein, immune system, autoimmune disease, genetic disease, clinical application
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