X-Linked Agammaglobulinemia

  • X-Linked agammaglobulinemia is an inherited disorder, occurring mainly in boys, in which your child is unable to produce antibodies (the body's primary defense against bacteria and viruses).

    • Also known as Bruton's agammaglobulinemia or congenital agammaglobulinemia
    • This immunodeficiency disease makes it difficult for your child to fight off bacterial infections and certain viral infections
    • Approximately one in 10,000 children are born with this disease
    • Early diagnosis and treatment may allow your child to live a relatively normal, active life

    How Children's approaches X-linked agammaglobulinemia:

    Children's is widely recognized as one of the world leaders in immunology treatment and research; your child's treatment will likely include antibody replacement.

    Boston Children's Hospital 
    300 Longwood Avenue
    Fegan 6
    Boston MA 02115


  • What is X-linked agammaglobulinemia?

    The first immunodeficiency disease ever identified, X-linked agammaglobulinemia is caused by a gene, located on the X chromosome that makes your child unable to produce antibodies. Children with this disease are prone to infections in the middle ear, sinuses, and lungs, but the bloodstream and internal organs may also be affected.

    What causes X-linked agammaglobulinemia?

    Women may carry the gene, but are unlikely to develop the disorder. However, an affected mother has a 50/50 chance of passing the gene to her child. Your child may be the first in your family to be diagnosed with X-linked agammaglobulinemia; this could be because the disease is a result of a new genetic mutation.

    What are the symptoms of X-linked agammaglobulinemia?

    Symptoms are likely to become apparent when your child is between 6 and 9 months old. Each child may experience symptoms differently, but common symptoms include:

    An unusual susceptibility to numerous illnesses such as:

    The symptoms of X-linked agammaglobulinemia may resemble other problems or medical conditions. Always consult your child's physician for a diagnosis.

  • 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.

  • 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.

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