X-Linked Agammaglobulinemia

Understanding X-Linked Agammaglobulinemia (XLA)

X-Linked Agammaglobulinemia (XLA) is a rare genetic disorder that affects the immune system. It is caused by mutations in the BTK (Bruton’s tyrosine kinase) gene, which results in a lack of B cells—the white blood cells responsible for producing antibodies. Consequently, individuals with XLA have severely reduced or absent levels of immunoglobulins (IgG, IgA, IgM), making them highly susceptible to recurrent bacterial infections. As an X-linked disorder, XLA primarily affects males, with symptoms typically appearing in infancy or early childhood.

Common Signs and Symptoms of X-Linked Agammaglobulinemia (XLA):

• Recurrent Infections: Frequent bacterial infections, particularly of the respiratory tract, ears, and sinuses.
• Early Onset: Symptoms usually emerge in infancy or early childhood.
• Poor Vaccine Response: Reduced or inadequate response to standard vaccinations.
• Failure to Thrive: In some cases, children may experience growth delays or struggle to gain weight due to chronic infections.
• Chronic Respiratory Issues: Persistent respiratory problems such as pneumonia or bronchitis.

This information is provided as a resource and is not intended to diagnose a condition or prescribe treatment. Please discuss any symptoms you may exhibit with your physician.