What’s X-Linked Agammaglobulinemia?

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X-linked agammaglobulinemia is a rare genetic disorder that affects the immune system, making it difficult for a person to fight off infections. Many different names are assigned to the disorder such as X-linked hypogammaglobulinemia, Bruton-type agammaglobulinemia, Bruton syndrome, and sex-linked agammaglobulinemia. The abbreviated name of the disorder is XLA. It is found only on the X chromosome, which is only found in men.

X-linked agammaglobulinemia prevents the production of antibodies usually found in the gamma globulins of blood plasma. These antibodies are the body’s main line of defense against bacteria, viruses, and other forms of infection or disease. This happens because people with XLA cannot make mature B lymphocytes, which are the cells that make the antibodies in the blood. The disorder is usually discovered in males within the first two years of life, as they constantly get sick with infections that their bodies should be able to fight off easily. Many times it takes serious conditions such as meningitis, sepsis, or pneumonia to make a diagnosis of X-linked agammaglobulinemia.

In addition to repeated infections, there are other symptoms of X-linked agammaglobulinemia. These include a lack of tonsils and adenoids, stunted growth, joint disease, and inflammation of the kidneys and muscles. Because many of these symptoms are also symptoms of other more common disorders and diseases, a diagnosis of XLA may not be immediately apparent. But the sooner the disease is identified in a child, the better. Undiagnosed or untreated cases of X-linked agammaglobulinemia almost always end in death from infection.

Once X-linked agammaglobulinemia is diagnosed, treatment that can manage the disorder can begin. This usually involves the use of gamma globulin antibodies via an injection or infusion every two to four weeks. Because the disorder never goes away, this treatment should continue for the rest of the person’s life.

In addition to scheduled injections, men with XLA also often use antibiotics to fight off any infections that may occur before they become life-threatening. Even with regular medications and injections, XLA side effects are common and can be debilitating. They include chronic lung disease and sinusitis; intestinal diseases and recurrent enteroviral infections. Each of these side effects is usually treated with additional antibiotics. If diagnosed early and treated regularly, people with X-linked agammaglobulinemia can usually lead normal lives.

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