Agammaglobulinemia

What is agammaglobulinaemia?

The human body contains immunity-boosting proteins known as immunoglobulins. Agammaglobulinaemia is a condition where an individual is deficient in these proteins and therefore, has a compromised immune system. Those with this condition are more likely to get diagnosed with infections lifelong.

What are its main signs and symptoms?

Owing to lack of immunoglobulins, a person with agammaglobulinaemia is susceptible to infections and is likely to suffer from recurring bouts of:

• Asthma – with no known cause.
• Infections of the ears, eyes and skin.
• Bronchitis - swelling in the airways.
• Stomach disorders and digestive tract infections.
• Infections of the upper respiratory tract and lungs, such as pneumonia.

It is typical that an increased number of infections are experienced in the first five years of birth.

What are the main causes?

The main cause of this condition is a genetic defect which affects males. Due to this defect, the growth of the immune cells is prevented, which leaves the individual at greater risk of infections. Those who have this condition are not only at a greater risk of getting infections but also the infections recurring without the individual being able to recover fully from the previous one. Infections are most likely to occur in the lungs, skin, stomach and joints. Owing to its genetic nature, it is most likely that the other members of the family may also suffer from agammaglobulinaemia.

How is it diagnosed and treated?

The main way to test for the presence of the condition is through blood tests which can detect the level of immunoglobulins and B lymphocytes. (Consult a doctor with Doctor app)

In attempting to treat the condition, doctors may supplement immunoglobulins in the system by administering them through subcutaneous injections or intravenously. In severe cases, a bone marrow transplant may be recommended. Doctors will also recommend stronger antibiotics to help counter recurring infections. All treatment is aimed at reducing the frequency and severity of the infections. 

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4. National Organization for Rare Disorders. Agammaglobulinemia. USA. [internet].
5. Genetic home reference. X-linked agammaglobulinemia. USA.gov U.S. Department of Health & Human Services. [internet].