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X-Linked Agammaglobulinemia

by James Fernandez, MD, PhD

X-linked agammaglobulinemia (Bruton disease) is a hereditary immunodeficiency disorder due to a mutation in a gene on the X (sex) chromosome. The disorder results in no B cells (lymphocytes) and very low levels of or no antibodies (immunoglobulins).

X-linked agammaglobulinemia affects only boys.

For about the first 6 months after birth, immunoglobulins from the mother protect against infection. At about age 6 months, levels of these immunoglobulins start to decrease, and affected infants start having recurring cough, rhinitis, and/or infections of the ears, skin, sinuses, and lungs. The infections are usually due to bacteria such as pneumococci, streptococci, and Haemophilus bacteria. Some unusual viral infections of the brain may develop. The tonsils are very small, and lymph nodes do not develop.

X-linked agammaglobulinemia increases the risk of developing infections in the joints (infectious arthritis), irreversible widening due to chronic inflammation of the airways (bronchiectasis), and certain cancers.

Blood tests are done to measure immunoglobulin levels and the number of B cells.

Infusions of immune globulin are given throughout life to provide the missing antibodies and thus help prevent infections. Antibiotics are promptly given to treat bacterial infections and may be given continuously. Despite these measures, chronic sinus and lung infections often develop.

With early diagnosis and treatment, life span is often unaffected, unless brain infections develop.