Agammaglobulinemia is a rare immune system disorder caused by a genetic mutation that impairs the body’s ability to produce immunoglobulin. Patients are highly susceptible to infections and require regular injections of Ig to keep their immune systems strong. Symptoms include chronic diarrhea, skin infections, and respiratory tract infections. Treatment involves intravenous injections of Ig and antibiotics, and in severe cases, surgery to repair damaged tissue.
Agammaglobulinemia is a rare type of immune system disorder in which the body doesn’t make enough immunoglobulin (Ig), an antibody that is important in fighting bacteria and viruses. A person with very low levels of Ig is highly susceptible to infections. In almost all cases, agammaglobulinemia is the result of a genetic mutation inherited from one or both parents. The disorder is usually seen in infants and children under the age of four who suffer from chronic diarrhea, frequent skin infections, and several bouts of pneumonia or bronchitis. Patients diagnosed with the condition typically receive regular intravenous injections of Ig to keep their immune systems strong.
The gene affected by agammaglobulinemia is called Bruton tyrosine kinase (Btk), after the doctor who first described the condition. A Btk mutation severely impairs the immune system’s ability to produce Ig and sometimes stops production altogether. The vast majority of patients diagnosed with agammaglobulinemia are males whose parents possess recessive Btk genes. In rare cases, a person can acquire the condition after suffering a serious infection or experiencing an allergic reaction to immunosuppressive drugs.
Infants and young children who have the disorder are very susceptible to viruses and bacteria. Patients are particularly prone to flu viruses, salmonella and respiratory tract infections such as pneumonia. Signs that a child may have agammaglobulinemia include persistent skin infections, chronic diarrhea, and severe bronchitis. A child may also suffer from frequent ear and sinus infections.
Parents should seek the guidance of a pediatrician if their child has frequent illnesses and infections. A pediatrician can diagnose agammaglobulinemia by reviewing the child’s medical history and taking blood samples to check for low Ig levels. The doctor may also suggest that parents get screened for Btk abnormalities to confirm a diagnosis. Once agammaglobulinemia has been confirmed, your pediatrician can explain treatment options.
Treatment for agammaglobulinemia usually involves an intravenous injection of Ig, which could come from donor blood or synthetic antibodies. Because Ig production does not normally improve over time, patients are often required to receive injections at regular intervals throughout their lives to avoid chronic health problems. Doctors also treat primary infections with oral and topical antibiotics. If a child’s respiratory tract has been severely damaged by frequent infections, they may need to have surgery to repair the damaged tissue. With regular treatments and checkups, most children are able to recover from their symptoms and successfully maintain their health.
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