![]() Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. This condition is inherited in an X-linked recessive pattern. With treatment to replace antibodies, infections can usually be prevented, improving the quality of life for people with XLA. People with XLA can develop severe, life-threatening bacterial infections however, affected individuals are not particularly vulnerable to infections caused by viruses. Recurrent infections can lead to organ damage. Infections that cause chronic diarrhea are also common. The most common bacterial infections that occur in people with XLA are lung infections (pneumonia and bronchitis), ear infections (otitis), pink eye (conjunctivitis), and sinus infections (sinusitis). In children with XLA, infections generally take longer to get better and then they come back again, even with antibiotic medications. After this time, the maternal antibodies are cleared from the body, and the affected child begins to develop recurrent infections. Individuals with XLA are more susceptible to infections because their body makes very few antibodies.Ĭhildren with XLA are usually healthy for the first 1 or 2 months of life because they are protected by antibodies acquired before birth from their mother. Antibodies attach to specific foreign particles and germs, marking them for destruction. B cells can mature into the cells that produce special proteins called antibodies or immunoglobulins. People with XLA have very few B cells, which are specialized white blood cells that help protect the body against infection. Causes of secondary hypogammaglobulinemia include gastrointestinal losses (e.g., malabsorption/protein-losing enteropathy), nephrotic syndrome, hematologic malignancy, and medication (e.g., immunosuppressives, such as corticosteroids and chemotherapy).X-linked agammaglobulinemia (XLA) is a condition that affects the immune system and occurs almost exclusively in males. The most common cause is common variable immunodeficiency (CVID). Antibiotics are used to treat most infections that result from CVID though patients may need treatment for a longer duration than a healthy individual. IRT treatments must be given regularly and are life-long. ![]() What is the treatment for CVID?ĬVID is treated with immunoglobulin replacement therapy (IRT), which most often relieves symptoms. ![]() A sample of the child’s blood serum can be analyzed for the presence of immunoglobulins by a technique called immunoelectrophoresis. Frequent bacterial infections, a lack of mature B cells, and low-to-nonexistent levels of immunoglobulins point to a diagnosis of XLA. He or she will order blood tests and possibly recommend genetic testing to confirm the diagnosis.ĭiagnosis. Your doctor will take a medical history to document recurrent infections and do a physical exam. ![]() Catching this condition early and getting on antibiotics or immune globulin treatment can limit infections, prevent complications, and improve your life expectancy. Immunoglobulin usually reaches normal levels by age four. The infections will often stop by their first birthday. Can Hypogammaglobulinemia go away?īabies with THI usually grow out of it. Patients with untreated XLA are prone to develop serious and even fatal infections. sepsis, or infection of the blood stream.ī cells are part of the immune system and normally manufacture antibodies (also called immunoglobulins), which defend the body from infections by sustaining a humoral immunity response.
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