Diagnoses & Conditions


Understanding Agammaglobulinemia

Agammaglobulinemia is a group of inherited immune deficiencies. There are several types of agammaglobulinemia including X-linked agammaglobulinemia (XLA), also known as Bruton’s agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency (very rare) and autosomal recessive agammaglobulinemia (ARA). In all cases patients present with low or absent immunoglobulins including IgG, IgA, and IgM. The precursor cells that produce immunoglobulins fail to develop or function properly leading to a deficiency in mature B-cells which are necessary to produce immunoglobulins.

Symptoms of Agammaglobulinemia

Patients are prone to develop infections due to the lack of antibodies. These infections will occur frequently at (or near) the surfaces of mucus membranes, such as the middle ear, sinuses and lungs. Infections may also occur in the bloodstream or internal organs.

Diagnosing Agammaglobulinemia

Any child with recurrent or severe bacterial infections should be considered for agammaglobulinemia. XLA and ARA are genetic diseases and can be inherited or passed on in a family. It is important to know the type of inheritance so the family can better understand why a child has been affected, the risk that subsequent children may be affected and the implications for other members of the family.

Treating Agammaglobulinemia

Though there is no cure for agammaglobulinemia, patients can receive immune globulin replacement therapy. Immune globulin therapy can be administered into the blood stream intravenously (IVIG) or under the skin subcutaneously (SCIG).


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