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Bruton's Agammaglobulinemia

Button-grandma Globulin-goblin

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Bruton's agammaglobulinemia is a rare X-linked recessive immunodeficiency caused by an inability to generate mature B-cells. Mature B-cells are an essential component of the immune response as they normally manufacture immunoglobulins, which defend the body from infections. Bruton’s agammaglobulinemia is caused by a mutation in the BTK tyrosine kinase gene, which controls the differentiation of B-cells. Decreased immunoglobulins of all classes are observed. Because the disease is X-linked recessive, it is commonly seen in boys and presents as recurrent bacterial infections after 6 months of age. Infants typically do not get infections before 6 months because they have maternal IgG antibodies that protect them. The diagnosis can be suspected when patients have a normal amount of early B-cells (or pre-B cells) but decreased number of mature B-cells.

6 KEY FACTS

This disease is inherited in an X-linked recessive fashion, meaning this disease is more common in boys.

Bruton tyrosine kinase, or BTK, normally controls the differentiation of immature B-cells to mature B-cells. This tyrosine kinase is defective in Bruton's agammaglobulinemia.

B-cell maturation is blocked due to dysfunction of Bruton tyrosine kinase, or BTK. This results in normal amounts of pre-B-cells (or immature B-cells), but decreased number of B-cells and decreased immunoglobulin production of all classes.

Defective B-cell maturation affects all classes of immunoglobulins, including IgG, IgM, IgE and IgA.

Infants with Bruton's agammaglobulinemia typically present with recurrent bacterial infections after 6 months of age due to poor immunoglobulin production. Infants typically do not get infections before six months because they have maternal IgG antibodies that protect them.

Infants typically do not get infections before six months because they have maternal IgG antibodies that protect them.

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