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Agammaglobulinemia (AGMX), or hypogammaglobulinemia, is a rare genetic disorder that is passed down in families that have low levels of immunoglobulins. Immunoglobulins are protective immune system proteins. Low levels of these antibodies will make a person more susceptible to infections. It is passed from parent to child and it was one of the very first immune system diseases ever identified.
What Causes Agammaglobulinemia?
The disease is the result of a genetic abnormality on the X chromosome that interferes with the human body’s ability to manufacture antibodies. The gene involved is known as “Bruton’s Tyrosine Kinase” or BTK, and it was first identified in 1993.
Agammaglobulinemia happens more often in men than in women because the mutation involves the X-chromosome. Males only have one X-chromosome. Therefore, a single defect in the gene can result in the disease and this is called “X-linked inheritance.” Females have two X-chromosomes and it is possible for them to be carriers of agammaglobulinemia. In women, a normal gene copy can mask the defects and problems caused by the mutation. Both of a female’s parents must have the gene to pass on the AGMX mutation to her.
People with agammaglobulinemia tend to develop repeated infections due to bacteria such as Haemophilus influenza, pneumoccoi and staphylococci. The most common areas to be affected by an infection include; the upper respiratory tract, joints, lungs, skin, and gastrointestinal tract.
What Are The Symptoms Of AGMX?
The symptoms of agammaglobulinemia usually show up in children between six and nine months of age. However, some children will not develop the symptoms of this disorder until they are between three and five years old. Boys will usually show signs of the disease before girls do.
The most common symptoms of the disease include:
- Frequent bouts of bronchitis
- Chronic diarrhea
- Infections of the eyes
- Infections of the ears
- Skin infections
- Upper respiratory tract infections
- Viral infections such as polio and/or hepatitis
- Blood stream infections
- Spinal cord infections
- Bone infections
- Kidney inflammation
- Joint disease
- Red blood cell breakdown
- A reduction of neutrophils in the blood
- Failure to thrive/grow
- Blood or colon cancer are possible, although extremely rare
- Muscle and skin inflammations
Many of these conditions happen in children without this disease. However, children who have agammaglobulinemia tend to get sick more often and have more severe symptoms.
How Is Agammaglobulinemia Diagnosed?
Agammaglobulinemia is diagnosed through a series of different tests. A doctor may order a flow cytometry to measure the levels of circulating B lymphocytes in the blood. Another test that can be used is the immunoelectrophoresis serum test and a quantitative immunoglobulin test could also be performed.