Understanding Agammaglobulinemia: The Genetic Immunity Disorder

Understanding Agammaglobulinemia: The Genetic Immunity Disorder

What is Agammaglobulinemia?

Agammaglobulinemia, usually abbreviated as AGMX, is a disease with a genetic origin, and it can only be transmitted from mother to child.

Here is Why

A woman has an XX chromosome, while a man has an XY chromosome. During fertilization, one of these X will be donated to a man’s X or Y chromosome since the gene is always in one of the two X chromosomes of the woman.

This leads to a probability of AGMX in the child if she eventually donates the affected X chromosome. The resulting baby will either be a carrier or will be affected.

Usually, the carrier will be a girl, and the affected will be a boy. This is so because the girl receives the father’s good X chromosome.

On the other hand, the boy receives the mother’s defective X chromosome. What you need to know is that each of these chromosomes has its functions.

Defective X Chromosome

A chromosome cannot perform its functions if it is bad. X chromosomes have a specific function in both males and females. In this case, the X chromosome contains codes that are responsible for the production of antibodies.

Now that the boy has a bad X chromosome, his body cannot do that. That is where the problem arises.

The girl, on the other hand, being a carrier, will still be able to produce antibodies from the other good X chromosome she inherited from her father even when she has that bad X she has received from her mother. That is why girls are rarely affected with agammaglobulinemia.

You can also call agammaglobulinemia, X-linked agammaglobulinemia, Bruton’s agammaglobulinemia, or congenital agammaglobulinemia.

It was the very first disease of the immune system ever discovered.

Agammaglobulinemia means an absence of gamma globulin in the blood. Gamma globulin is an antibody. Antibodies make up the immune system of the body. They are the body’s defense system. They fight infections and get rid of anything that has the ability to hurt the body.

Causes of Agammaglobulinemia

The cause is BTK. BTK is Bruton’s Tyrosine Kinase. It is the gene responsible for the production of gamma globulin. It is responsible for that because it has been mutated; its structure has been altered. Because it has been mutated, it cannot perform its functions – the production of gamma globulins. 

How this is transferred from a parent to a child has already been explained. Agammaglobulinemia only needs a single bad copy of a gene to express itself. That is why it is called an X-linked disease or inheritance.

Symptoms of Agammaglobulinemia

Viral infections: Polio

It is important that you look out for symptoms in kids, especially boys who are about 6 to 9 months old. From 6 months downward, it is the mother’s antibodies that protect the child because, by this time, the child has not begun producing his own. 

That is why you will not see symptoms during this period but from 6 months upwards.

Once this time has elapsed, you will now begin to see the child show some symptoms because he cannot produce his own antibodies. Some can even present symptoms later than this time, say 3-5 years after. 

It is possible for girls to show very mild symptoms since they are carriers. You just have to be very observant of your kids.

Common symptoms include:

  1. Gastrointestinal infections and inflammation e.g. chronic diarrhea
  2. Viral infections: Examples include polio, hepatitis, etc.
  3. Nasal infection and inflammation
  4. Infections of the eyes
  5. Infections of the lungs
  6. Infections of the skin
  7. Infections of the bones
  8. Infections of the bronchi
  9. Infections of the spinal cord
  10. Infections of the ears
  11. Inflammation and cancer of the kidneys
  12. The disease of the joint
  13. Infection, cancer, and hemolysis of the blood. Hemolysis of the blood is the breaking down of red blood cells.
  14. Inflammation of the skin and muscles
  15. Low blood neutrophils
  16. Poor growth and development

Kids without Agammaglobulinemia can also present these symptoms. However, affected kids have severer symptoms.

Diagnosis for Agammaglobulinemia

Your child’s medical history before he goes ahead to carry out physical and laboratory examinations on him. The laboratory tests assess the state of his immune system especially the antibodies. His blood will be tested for hemolysis and immune system anomalies.

The following tests will also be conducted to assess his antibodies level and functions:

  • Quantitative immunoglobulins
  • Immunoelectrophoresis
  • Flow cytometry

Treatment for agammaglobulinemia

Treatment for agammaglobulinemia​

Before commencing treatment on the child, certain things should be taken into consideration. This is the responsibility of your doctor.

Factors to be considered are:

  1. The age of your child
  2. His general wellbeing
  3. His medical history
  4. And how severe his condition is

Once your doctor has determined all of that, a treatment regimen called gamma globulin therapy will be given to him. This therapy is to replace antibodies in the blood of your child. Once these antibodies have been injected into his blood, they will begin to fight all the infections in his body.

It is important to note that kids with AGMX are expected to:

  1. Always go for treatment immediately they have an infection or illness whatsoever. Why? Because their body does not have the capacity to fight infections. They have to receive support for that from an injection.
  2. Desist from taking viral vaccinations that are life because a live viral vaccine, rather than prevent, is a trigger to the development of the disease


Countless reports have it that kids affected with AGMX have the ability to enjoy healthy lives like every other kid. Notwithstanding, attention must be given to their early diagnosis and treatment because a body without antibodies is like a house without a roof.

It means their body defense mechanism is absent. It means they will not be able to fight infections. That is the more reason they should not be neglected; they might not survive it because a lack of antibodies in their blood will result in chronic tissues damaging infections and inflammation will erupt.

These damaging effects might not be reversible. Early diagnosis and treatment is also not a guarantee that they will live long. It is that dicey.

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Agammaglobulinemia is not a death sentence. It only means your child will need special care and attention.

Reports indicate that children with AGMX can lead fulfilling lives like their peers. Early diagnosis and treatment are paramount, as a deficiency in antibodies leaves their immune system vulnerable.

Neglecting their condition may lead to severe infections and chronic inflammation, jeopardizing their well-being.

On the bright side, early intervention and informed decision-making can significantly impact the management of Agammaglobulinemia.

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