WCN26-4189 Desmopressin as a Promising Therapeutic Approach for the Polyuric Phenotype in Patients with LRBA Deficiency

Lipopolysaccharide-responsive and beige-like anchor protein (LRBA) deficiency is a rare genetic disorder characterized by immune dysregulation. The immune checkpoint molecule cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4) fails to perform proper membrane trafficking in the absence of LRBA. In addition to immune cells, LRBA localizes to intracellular vesicles in various epithelial cells; however, its physiological roles have not been accurately deciphered. Our previous studies demonstrated that the LRBA–protein kinase A (PKA) complex facilitates water transport by promoting vesicular trafficking of aquaporin-2 (AQP2) and AQP4 in renal collecting duct cells.