CTLA-4 Deficiency

CTLA-4 deficiency is a rare immune system disorder caused by mutations in the gene responsible for producing the CTLA-4 protein. This protein acts as a braking system to prevent immune cells from overreacting. Without enough CTLA-4, the immune system becomes hyperactive, attacking the body’s own tissues and leading to autoimmune problems like inflammation, tissue damage, and increased susceptibility to infections. Symptoms often include inflammation of multiple organs, unexplained fevers, and autoimmune conditions. Treatment may involve immunosuppressive medications to control the immune response and manage symptoms.