LPS-responsive beige-like anchor protein deficiency

LPS-responsive beige-like anchor protein deficiency, or LRBA deficiency, is a rare autosomal recessive genetic condition first described in 2012, caused by loss of the LRBA protein, which normally helps regulate the immune checkpoint protein CTLA4. Patients most often show immune dysregulation, organ enlargement, recurrent infections, low immunoglobulin levels, and granulomatous lung disease, along with a predisposition to inflammatory bowel disease.