X-Linked Agammaglobulinemia

1 What is X-linked Agammaglobulinemia?

X-linked agammaglobulinemia is an inherited disease related to immune system in which the body’s ability to fight with diseases is reduced.

People with this disorder may have:

  • inner ear infections,
  • infection of sinuses,
  • respiratory tract diseases,
  • infection of bloodstream
  • internal organs.

This disease affects men exclusively. Diagnosis often occurs in infancy or early childhood.

2 Symptoms

The signs and symptoms of X-linked agammaglobulinemia include frequent infections of

  • inner ear,
  • sinuses
  • respiratory tract.

It may heal with medications but it occurs again and again.

Even vaccinations lead to serious life-threatening disease.

3 Causes

X-linked agammaglobulinemia is caused genetically and has no external causes.

It is an X-linked disease which means that the disease passes with X-chromosome.

In order to have a boy with this disease, the mother should be a carrier but in order to have a girl with the disease, the mother should be a carrier and the father should have the disease.

4 Making a Diagnosis

To diagnose X-linked gammaglobulinemia, doctors will review family history and medical history.

A number of tests will be necessary to confirm the diagnosis. These tests include:

  • Blood and serum measurement tests: In this tests the level of immunoglobulins are measured in the blood.
  • Genetic testing: A genetic testing may be required to confirm X-linked agammaglobulinemia because there are several other immunodeficiency diseases.

5 Treatment

Treatment of X-linked agammaglobulinemia should start as soon as possible to reduce the risk of sepsis and other complications.

Treatments include:

  • Immunoglobulin G: Injections of Ig-G periodically may help to boost the immune system temporarily.
  • Infection management: Giving medications according to the infection that took place as soon as they occur.
  • Medication: Antibiotic treatment may be required to help treat the infections that are occurring and as prophylaxis (prevention). Stem cell transplant is a growing area of medicine. It is not yet fully used in medical practice but it has a great future and may help to curb this disease.

6 Prevention

If someone in your family has a case of X-linked agammaglobulinaemia, you must go for genetic counselling before having a baby in order to prevent the disease in the child. 

7 Risks and Complications

There are several risks and complications associated with X-linked agammaglobulinemia.

The main risk factor in this case is having a family member with this disorder.

Complications include:

  • severe infections,
  • sepsis (bacteria in blood)
  • even death if not treated in time.