What is Agammaglobulinemia?

Agammaglobulinemia, a genetic autoimmune disorder, is an inherited immune system disorder in which the body's immune system is not able to make enough antibodies to fight off infections either bacteria or viral. Agammaglobulinemia is also known by the name of Bruton's Agammaglobulinemia or X-linked agammaglobulinemia. Since children with this condition do not have sufficient antibodies hence they are more prone to frequent infections. This condition is seen to occur in males more than females.

Agammaglobulinemia is caused due to a defect in the gene BTK or Bruton's Tyrosine Kinase which is responsible for production of antibodies to fight off infections. The symptoms of Agammaglobulinemia start to become apparent by the time the child is about a year old where the child starts to have frequent infections due to Agammaglobulinemia.

What Causes Agammaglobulinemia?

As stated, Agammaglobulinemia is a genetic condition and is passed down from the parent to the child. This condition is caused by an abnormality in the BTK gene on chromosome X which affects the body's ability to produce antibodies. The reason why this disease occurs in males more than females is because the gene defect is linked to the X chromosome and males have one X chromosome while females have two X chromosomes and hence they are the carriers of this defective gene. It is an autosomal recessive trait means that only one copy of the defective gene is enough to get Agammaglobulinemia. In some cases, the gene mutation in the X chromosome occurs as a new mutation and the child has this condition despite having no family history of this Agammaglobulinemia.

What is Agammaglobulinemia?

What are the Symptoms of Agammaglobulinemia?

During the first six months of a child's life it is the mother's antibodies which protect the child from any infection but after six months it is the child's own antibodies which protect the child from infection and in cases of Agammaglobulinemia where there is insufficient production of antibodies this is the time when the symptoms of Agammaglobulinemia start to surface but in some cases there may be no symptoms even after the child is about four or five years of age but that is quite rare. Some of the symptoms of Agammaglobulinemia are:

  • Infections of the GI tract to include chronic diarrhea
  • Viral infections like polio and hepatitis
  • Frequent nasal infections
  • Infections of the eyes
  • Blood infections
  • Lung infections
  • Skin infections
  • Bone infections
  • Bronchial infections
  • Spinal cord infections
  • Ear infections
  • Kidney inflammation
  • Joint diseases
  • Failure to thrive.

These symptoms may also occur in children who do not have Agammaglobulinemia but children with Agammaglobulinemia get infected more frequently than the children without this disease condition and the severity of the symptoms may also be more in children with Agammaglobulinemia.

How is Agammaglobulinemia Diagnosed?

To make a diagnosis of Agammaglobulinemia, the pediatrician will take a detailed history of the family inquiring as to whether anyone else in the family have had the same symptoms while growing up. A blood work will then be performed to look at the immune system of the body and look for the antibody levels in the body. There are many tests like flow cytometry, quantitative immunoglobulins, and immunoelectrophoresis that can quantitate whether he body is producing enough antibodies required to fight infections and this will give clinching evidence to confirm the diagnosis of Agammaglobulinemia.

How is Agammaglobulinemia Treated?

The treatment for Agammaglobulinemia depends on various factors such the age of the child, the overall health of the child, and the severity of the condition. The most preferred treatment for Agammaglobulinemia is to replace the antibodies in the blood. This is called gamma globulin therapy and this will provide antibodies directly to the child's body through blood and prevent the child from getting frequent infections or in other words treat Agammaglobulinemia. It should be noted here that children with Agammaglobulinemia should not get live vaccinations as the child may end up having the disease for which vaccinations were given instead of preventing it. Also it is extremely important that the child should be treated appropriately and emergently for any viral or bacterial infections so as to prevent worsening of the child's condition due to Agammaglobulinemia.

What is the Prognosis of Agammaglobulinemia?

The overall prognosis of a child with Agammaglobulinemia is quite good and most of the children go on to live healthy lives and participate in all normal activities, although it is important to make an accurate and early diagnosis and start immediate treatment for Agammaglobulinemia. If left untreated, Agammaglobulinemia can prove to be life threatening as without antibodies the children will not be able to be protected from potentially serious infections due to Agammaglobulinemia.

Written, Edited or Reviewed By:

, MD, FFARCSI

Last Modified On: May 11, 2017

Pain Assist Inc.

Pramod Kerkar
  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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