X-linked agammaglobulinemia (XLA) is a condition in which the body cannot produce antibodies, which normally fight infections. It occurs when a person has a genetic defect. The symptoms are not always easy to detect. For instance, an infant who has XLA will appear to be healthy for the first couple of months of life, then develop recurrent infections. These infections are most likely to occur in the lungs, skin, or joints, but they can also occur in the sinuses or internal organs.
Infections caused by bacteria are very serious. If left untreated, they can lead to chronic disease. In particular, infections caused by the bacteria mycoplasma cause severe arthritis. If left untreated, the patient may also develop bronchiectasis, which may require lung transplantation. However, the risk of bronchiectasis is reduced if treatment is started early. Patients are also at risk for developing inflammatory bowel disease if their bowels are not properly treated. If a patient is experiencing a sudden infection, the doctor may prescribe antibiotics. In addition to antibiotics, a patient may be prescribed a long course of antibiotics as a preventive measure.
People with XLA may also be at risk for inflammatory conditions such as adenocarcinoma of the gastrointestinal tract. In addition, they are more likely to develop lymphoma, and the risk of autoimmune diseases such as rheumatoid arthritis is higher.
The most common XLA symptoms are recurrent bacterial infections that are diagnosed during the first couple of years of a child’s life. Although the disease is not curable, early diagnosis and treatment can prevent infections. The disease is also inherited, so a person who has a family member with the disease is at increased risk for developing it. If a person has a family member who has XLA, it is important to have genetic counseling before pregnancy. Also, pregnant women with the disease are at risk for passing it to their baby. During the third trimester of pregnancy, a mother’s IgG transfer to her fetus begins, but the transfer will slow down. This is a good way to protect the fetus from infections. However, the antibody level in a fetus with XLA will continue to drop during the child’s first year of life. The child will also have an increased risk of developing infections in the lungs, bloodstream, and internal organs.
In addition to infections, XLA patients may also develop anaphylactic reactions to gammaglobulin, a drug used to treat certain infections. Reactions are more likely to occur when the brand of gammaglobulin changes. However, a reaction to gammaglobulin is less likely to occur in people who have a viral infection.
The diagnosis of XLA requires a careful medical history and physical examination, along with a laboratory test. In addition, genetic testing is often used to determine the cause of XLA. For instance, it is not uncommon for males with XLA to have a second mutation in the BTK gene, which is the gene that controls how well antibodies are made.
