X-linked Agammaglobulinemia: Causes, Symptoms, Diagnosis, Treatment, Prevention and Complications

A genetic condition called X-linked agammaglobulinemia, or XLA is marked by the body producing insufficient amounts of mature B-cells. B-cells are a vital part of your immune system. They create proteins known as antibodies that support the body's fight against illness. People who have XLA often become ill and struggle to fight off infections.

People with XLA usually have underdeveloped or absent tonsils, adenoids, and lymph nodes because B-cells are required for the development of some immune system structures. Because of the manner it is inherited, it usually exclusively affects boys or those who are assigned male at birth (AMAB).

An other term for XLA is:

• Brutons agammaglobulinemia.
• Congenital agammaglobulinemia.
• Hypogammaglobulinemia.

Hypogammaglobulinemia is another name for common variable immunodeficiency (CVID), which is similar to XLA. CVID is usually less severe and is not detected until adulthood. Typically, doctors diagnose individuals with XLA in their early childhood or before they turn one year old.

What does "X-linked" mean?

Our chromosomes are a collection of genes that come from each of our two parents. Our genes include the instructions our bodies require to produce the proteins that keep our bodies working. A mutated gene is typically compensated for by a second copy, which keeps your body from malfunctioning.

AMAB people and boys have a mismatched set of sex chromosomes. They have one X and one Y, or two Xs in the case of girls and people assigned a feminine gender at birth. A mutation in one of these genes cannot be compensated for by another gene in them.

The BTK gene (X-linked) is located on the X chromosome. 

Females and individuals with AFAB can have one X chromosome harbouring the mutation causing XLA and still produce a sufficient number of mature B-cells because they have a second functioning copy of BTK. In AMAB individuals and men, there is only one X chromosome. If they have a BTK mutation, they will develop XLA.

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Causes Of X-linked Agammaglobulinemia

A genetic mutation is the cause of X-linked agammaglobulinemia. Antibodies are proteins that fight infection, and the sickness stops them from being made. About 40% of those who have the illness are impacted by a family member who has it.

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Symptoms Of X-linked Agammaglobulinemia

In the initial months of life, most babies diagnosed with XLA appear healthy. They are protected by the proteins called antibodies that they inherited from their mothers before they were born.

Once these antibodies are eliminated from their systems, the newborns begin to experience bacterial infections once more. There could be a major risk to life from the illnesses. Lungs, ears, sinuses, and skin can all get infected.

XLA-affected male neonates are born with:

• Extremely small tonsils.
• Small or absent lymph nodes.

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Diagnosis Of X-linked Agammaglobulinemia

To make a diagnosis, a physical examination and a medical history of recurring infections are required. Blood tests and perhaps genetic testing could confirm the diagnosis.

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Treatment Of X-linked Agammaglobulinemia

Treating XLA has no established therapy. Building immunity to fend off infections is the aim of treatment. When an infection develops, it can also be promptly treated.

XLA drugs include the following prescriptions:

Gamma-globulin. Antibodies in this family of blood proteins combat pathogens. It is injected into a vein every two to four weeks, or it can be taken in weekly doses.

• Reactions to gammaglobulins might induce headaches, backaches, nausea, and chills. Reactions are more likely to occur when there is a viral infection present, such as a cold.
• Antibiotics: Some people with XLA take antibiotics regularly to stay healthy. Compared to people without XLA, some people use antibiotics for bacterial infections for a longer duration.

Your physician will probably suggest that you make follow-up appointments every six to twelve months so that any XLA issues can be monitored. You might also be told not to have live immunizations for diseases like chickenpox, measles, mumps, rubella, or live polio.

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Can X-linked Agammaglobulinemia Be Prevented?

If you are concerned about XLA, a medical practitioner can run tests on you to check for genetic abnormalities that you might pass on to your offspring. If you are an AFAB woman or individual, you have a 50% chance of passing on the XLA-causing gene to your child, who would subsequently have the disorder. 

If you are an AMAB or a man with XLA, your daughters would be carriers as well. Should the tests indicate that you have XLA or are a carrier, you can talk to a genetic counselor or the physician who performed the tests about your options.

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Complications Of X-linked Agammaglobulinemia

Individuals with XLA can have very typical lives. They should try to participate in activities that are suitable for their age. Recurrent infections associated to XLA, however, would likely need careful monitoring and attention. They can damage organs and present a major risk to life.

Among the possible problems are:

• Long-term lung illness is known as chronic lung disease.
• Increased likelihood of getting some cancers.
• Infection-related arthritis.
• Vaccinations with live viruses raise the possibility of central nervous system infections.

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