LRBA (Lipopolysaccharide-Responsive and Beige-Like Anchor Protein) is a member of the BEACH-protein family. It is a large cytosolic protein comprising several functional domains, including the Plekstrin Homology (PH)-like domain, BEACH domain, and multiple WD40 repeats (1).
LRBA is essential for the proper functioning of immune cells, particularly B cells and T cells. It has been shown to regulate the recycling of the immune receptor CTLA-4, which is crucial for T cell activation and downregulation (2, 3). LRBA deficiency manifests as immunodeficiency, autoimmune diseases, and various hematological disorders, like reduced levels of B cells, impaired immunoglobulin production and more (4).
Dysfunctional LRBA is also connected to several CNS disorders like sensorineural hearing loss (5), cerebral granulomatous lesions, nerve demyelination and atrophy (6).
LRBA is widely expressed in multiple tissues including lymphoid organs, the gastrointestinal tract, kidney, the pancreas, and neuronal cells (7).