X-Linked

Agammaglobulinemia X-Linked Agammaglobulinemia (XLA) is an inherited immune deficiency disorder that affects the body's ability to produce antibodies. It is caused by mutations in the BTK gene, which produces a protein involved in the development of immune cells known as B-cells. People with XLA have greatly reduced levels of circulating B-cells and antibodies, making them vulnerable to recurrent and persistent infections with bacteria and viruses. Treatment of XLA involves lifelong administration of antibodies, including intravenous immunoglobulin (IVIG) therapy and other immunomodulatory drugs. Owing to its life-long impacts, diagnosis of XLA is essential in order to initiate timely and effective treatment, improve quality of life, and potentially avoid life-threatening infections.