X-Linked Agammaglobulinemia | Diagnosis & Treatment

How is X-linked agammaglobulinemia diagnosed?

Your physician will make the diagnosis based on your child's medical history. Your doctor will conduct a physical exam, and may order blood tests to help confirm the diagnosis.

What are the treatment options for X-linked agammaglobulinemia?

Treatments vary based on your child's age, health, and medical history, the extent of your child's disease, his tolerance for specific medications, procedures, and therapies, and, of course, your own opinions and preference will be considered.

Standard treatments include:

  • Antibody replacement: Gamma globulin therapy, administered intravenously, will give your child the antibodies he cannot make himself, in order to protect against infections and reduce their spread
  • Prompt treatment of any infections
  • Avoidance of live viral vaccinations, such as the polio vaccine, as that could cause your child to develop the disease which the vaccine is meant to prevent.

Children with X-linked agammaglobulinemia can become very ill or even die at an early age from severe infections. Children who develop chronic lung disease with bronchiectasis (widening and scarring of the airways) may have a shortened lifespan. But your child, if diagnosed and treated early, should be able to lead a relatively normal, active life, without the need for isolation.