Diagnoses & Conditions


Understanding Agammaglobulinemia

People with agammaglobulinemia, a type of primary immune deficiency disease, lack the cells that are responsible for producing antibodies (immunoglobulins), which help fight infections. Those with agammaglobulinemia have very low or absent levels of all the types of immunoglobulins [immunoglobulin type G (IgG), immunoglobulin type A (IgA), immunoglobulin type M (IgM)] and have an increased risk of infection. The types of agammaglobulinemia are: X-linked agammaglobulinemia (XLA), the much rarer X-linked agammaglobulinemia with growth hormone deficiency (about 10 cases reported), and autosomal recessive agammaglobulinemia (ARAG).

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 is extracted from a large pool of human plasma and contains all the important antibodies present in the normal population. Immune globulin therapy can be administered into the blood stream intravenously (IVIG) or under the skin subcutaneously (SCIG).


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