Agammaglobulinemia

Definition

Definition of Agammaglobulinemia
Agammaglobulinemia is an inherited disorder in which there are very low levels of protective immune system proteins called immunoglobulins. People with this disorder repeatedly develop infections.

Symptoms

Symptoms of Agammaglobulinemia
Symptoms include frequent episodes of:

1. Bronchitis
2. Chronic diarrhea
3. Conjunctivitis (eye infection)
4. Otitis media (middle ear infection)
5. Pneumonia
6. Sinusitis
7. Skin infections
8. Upper respiratory tract infections

Causes

Causes of Agammaglobulinemia
Agammaglobulinemia is a rare disorder that mainly affects males. It is the result of a genetic abnormality that blocks the development of normal, mature immune system cells called B lymphocytes.

As a result, the body produces very little (if any) immunoglobulins in the bloodstream. Immunoglobulins play a major role in the immune response, which protects against illness and infection.

Diagnosis

Diagnosis of Agammaglobulinemia
The disorder is confirmed by laboratory measurement of blood immunoglobulins.

Tests include:

1. Flow cytometry to measure circulating B lymphocytes
2. Immunoelectrophoresis - serum
3. Quantitative immunoglobulins - IgG, IgA, IgM (usually measured by nephelometry)

Treatment

Treatment of Agammaglobulinemia
The goal of treatment is to reduce the number and severity of infections, and to provide genetic counseling to affected families.

Receiving immunoglobulins (IVIG) through a vein (intravenously) helps boost the immune system by providing the body with the antibodies that are decreased or missing. Routine treatment with IVIG is central to the treatment of this disorder.

Prognosis

Prognosis of Agammaglobulinemia
Treatment with IVIG has greatly improved the health of people with agammaglobulinemia. Without treatment, most severe infections are fatal.

Prevention

Prevention of Agammaglobulinemia
Genetic counseling should be offered to prospective parents with a family history of agammaglobulinemia or other immunodeficiency disorders.