Introduction
The immune system is the most extensive network system working for all the vital organs in the body. It has various parts, such as the spleen, tonsils, skin, mucous membrane, and white blood cells. When an antigen, bacteria, or virus invades the body, the immune system works as a defense mechanism and destroys the foreign invaders from harming the organs. It is known as the immune response. The immune system sometimes does not work correctly when a person’s immunodeficient or when there is no threat but an individual has an immune response.
What Is X-linked Agammaglobulinemia?
It is an inherited immune disorder in which the B cells (specialized white cells) or immunoglobulin that makes the B cells are not produced. It is also known as X-linked infantile agammaglobulinemia, Bruton type agammaglobulinemia, and congenital agammaglobulinemia. It usually occurs in children, and males are more affected than females. The signs of this condition usually start showing from 6 to 18 months of age. The B cells protect the body from infection, and when there is less, the body is easily affected by even slight infection. Some of the most common infections occurring due to this condition include:
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Pneumonia - This infection inflames the air sacs in the lungs. The air sac is filled with pus or fluid, which leads to difficulty in breathing.
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Ear Infection - It is an infection in the middle ear. It leads to blockage and swelling in the nasal passage and throat.
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Pink Eye (Conjunctivitis) - It is an infection in which the conjunctiva (clear tissue covering the white part of the eye) is irritated, inflamed, and sometimes has sticky discharge.
What Causes X-linked Agammaglobulinemia?
X-linked agammaglobulinemia or XLA is caused by a mutation in a gene Bruton tyrosine kinase or BTK. This particular gene is responsible for giving instructions to make the BTK protein which is essential in the development of B cells. It also helps in the normal functioning of the immune system. When a sufficient amount of BTK protein is present, the B cells are not developed and function properly, leading to insufficient antibodies. As a result, the immune system cannot fight against invading bacteria or viruses without it, which leads to infection. This condition occurs mainly in males as the abnormal X chromosome causes it. In females, two X chromosomes are present; one is inactivated and usually works as a carrier. The carrier female has around a 25 percent chance of having a carrier daughter or a 25 percent chance of having an affected son with each pregnancy.
What Are the Symptoms of X-linked Agammaglobulinemia?
The symptoms of this condition include the following:
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Skin infection.
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Diarrhea.
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Pink eye.
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Bronchitis (inflammation in airways called bronchi).
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Inflammation of muscles.
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Nasal infection.
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Slow growth.
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Breakdown of red blood cells.
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Infection of the bloodstream.
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Meningitis (an infection causing a thin layer surrounding the brain and spinal cord).
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Kidney inflammation.
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Infection in bone.
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Hepatitis.
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The joint disease is mainly in the knees.
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Absence of tonsils.
How Is X-linked Agammaglobulinemia Diagnosed?
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Firstly, the doctor will examine the patient and note the complete medical history. Then, to confirm the diagnosis, the doctor will advise a blood test.
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A healthcare professional will take the blood sample from the arm’s vein. A small needle is inserted in the vein, and blood is drawn out in a vial or a test tube. The patient may feel slight discomfort or pain at the puncture site for a few minutes.
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Then, the sample is sent to the laboratory for further testing. The blood test helps detect early-onset bacterial infections and abnormal immunoglobulin levels.
What Are the Possible Complications That Can Occur Due to X-linked Agammaglobulinemia?
Some possible complications include:
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Chronic Lung Disease - Certain lung diseases, such as chronic obstructive pulmonary disease (COPD), can occur due to recurrent XLA infection. COPD obstructs the normal airways from the lungs. If a patient already suffering from XLA is a chain smoker, there are higher chances of developing COPD. It leads to reduced lung function and sometimes leads to lung cancer. In infants, this condition is more life-threatening as an obstruction in the airways may lead to severe complications.
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Septic Arthritis - It is also known as infectious arthritis. This condition causes a painful infection in joints. When XLA infection enters the body, it may spread to different body parts through the bloodstream. It causes rapid pain, swelling, and chills around the knee and sometimes around the ankles, wrists, and hips.
How Is X-linked Agammaglobulinemia Managed?
The primary treatment modality for XLA is to boost immunity, as there is no particular cure for this condition. The doctor will firstly advise not to give live vaccines, such as chicken pox vaccines, live polio, or measles-mumps-rubella, as they may cause infection in the central nervous system.
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Gamma globulin is a protein in the blood containing antibodies that fight infections. It is given intravenously every two to four weeks. It helps in regaining antibodies and immunity. In addition, antibiotics are given to prevent XLA infection. Some patients are given antibiotics as a preventive measure.
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Genetic counseling helps the patient and family to understand the condition. The genetic counselor will detail how likely a family member has XLA. This counseling especially helps a woman who is planning to or is pregnant.
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The doctor will also advise avoiding vigorous physical activities as they can easily damage the spleen.
Conclusion:
X-linked agammaglobulinemia is a genetic disorder that affects the average growth of B cells, leading to very low immunoglobulins in the body. Immunoglobulins help the immune system fight any invading bacteria or virus. This condition is more common in males than females. If diagnosed and treated on time, this condition does not cause complications. However, if the symptoms are neglected for a long time, it can lead to complications like chronic obstructive pulmonary disease. Gammaglobulin IV and antibiotics are treatment options that will help recover from XLA faster.
