Natural Pedia Com

X-linked agammaglobulinemia – causes, side effects and treatments at

Tuesday, August 07, 2018 by

X-linked agammaglobulinemia is a genetic immunodeficiency disorder. It occurs when there is either a low level or an absence of immunoglobins and an absence of B-lymphocytes, leading to recurrent bacterial and/or viral infections.

Immunoglobulins are a type of antibodies that protect the body from infections. A person with X-linked agammaglobulinemia is highly susceptible to infections and is often unable to fight these on their own.

X-linked agammaglobulinemia occurs due to mutations in a gene on the X-chromosome. X-chromosome encodes Bruton tyrosine kinase (BTK), which is essential for the development and regulation of B-lymphocytes; without it, there will be no mature B-lymphocytes, and hence no antibodies.

Males usually inherit the disorder, as they only have one X-chromosome. Females, having two X-chromosomes, are rarely affected; even if one X-chromosome is defective, the good one may dominate it and not let the condition develop.

Males with X-linked agammaglobulinemia have very small or absent tonsils and adenoids and don’t develop lymph nodes. They also have difficulties producing the antibodies (gamma globulins) in blood plasma. This causes recurrent infections in various body organs, with encapsulated bacteria such as Streptococcus pneumoniae, Haemophilus influenzae.

Patients are also vulnerable to persistent central nervous system infections. The disorder also increases the risk for infectious arthritis, bronchiectasis, and certain types of cancer.

X-linked agammaglobulinemia can be detected when there is low immunoglobulin levels and absent B-cells, and diagnosed through genetic testing.

Known symptoms and risk factors for X-linked agammaglobulinemia

The symptoms of X-linked agammaglobulinemia are mainly due to the infections that the patient can’t fight off. The signs vary from each individual but are usually observed in children between three to five years old.

Symptoms include recurring episodes of:

  • Bronchitis (airway infection)
  • Chronic diarrhea
  • Conjunctivitis (eye infection)
  • Otitis media (middle ear infection)
  • Pneumonia (lung infection)
  • Sinusitis (sinus infection)
  • Skin infections
  • Upper respiratory tract infections
  • Blood infections
  • Spinal cord infections
  • Kidney inflammation
  • Joint diseases

The following factors increase a person’s chances of developing X-linked agammaglobulinemia:

  • Age. The disorder is usually seen in infants aged six months and older when their mother’s immunoglobulins levels start decreasing. Inherited X-linked agammaglobulinemia is very rarely seen in adults.
  • Gender. The disorder affects males due to having only a single (defective) X-chromosome.
  • Location. It may occur worldwide.
  • Family history. This genetic disorder is passed down from parent (especially mother) to child.
  • Genetic mutation. Sometimes it can develop in an individual due to a new mutation of the X-chromosome. In this situation, the mother is not a carrier of the disease (not inherited).

Body systems harmed by X-linked agammaglobulinemia

People with X-linked agammaglobulinemia develop infections repeatedly. Common infections include ones that are caused by bacteria such as H. influenzae and S. pneumoniae. Common sites of infection are gastrointestinal tract, joints, lungs, skin, and upper respiratory tract.

Individuals with this disorder may experience complications, such as:

  • Arthritis
  • Eczema
  • Chronic sinus disease
  • Chronic pulmonary disease
  • Meningitis
  • Bronchiectasis (chronic irreversible inflammatory changes of the lung passages) due to repeated infections of the lung

If infections become frequent and disabling, the quality of life may be significantly affected.

Food items or nutrients that may prevent X-linked agammaglobulinemia

Currently, there are no specific foods, nutrients, and even methods or guidelines to prevent X-linked agammaglobulinemia, due to its nature as a genetic condition. It is recommended for expecting parents (and related family members) to undergo genetic testing and prenatal diagnosis (molecular testing of the fetus during pregnancy) to better understand the risks and plan accordingly.

If there is a confirmed family history of the condition, genetic counseling may help assess risks for couples planning to have a child.

Treatments, management plans for X-linked agammaglobulinemia

The treatment options for X-linked agammaglobulinemia may include antibody replacement through gamma globulin therapy and treating infections with appropriate antibiotics.

Where to learn more


X-linked agammaglobulinemia is a genetic immunodeficiency disorder, which occurs when there are low levels or absence of immunoglobulins and absence of B-lymphocytes.

X-linked agammaglobulinemia occurs due to mutations in a gene on the X-chromosome.

Males usually inherit this condition since they only have one (defective) X-chromosome.

Males with X-linked agammaglobulinemia have very small or absent tonsils and adenoids and don’t develop lymph nodes. They also have difficulties producing the antibodies which lead to recurrent infections with encapsulated bacteria.

Sources include:


comments powered by Disqus