Agammaglobulinaemia

A rare genetic disorder affecting the immune system

Agammaglobulinemia
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Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Recurrent infections, lack of antibodies
Complications	N/A
Onset	Infancy
Duration	Lifelong
Types	N/A
Causes	Genetic mutations
Risks	Family history
Diagnosis	Blood tests, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Immunoglobulin replacement therapy
Medication	N/A
Prognosis	N/A
Frequency	Rare
Deaths	N/A

Agammaglobulinemia is a rare genetic disorder characterized by the body's inability to produce immunoglobulins, or antibodies, which are crucial components of the immune system. This condition leads to increased susceptibility to infections.

Pathophysiology

Agammaglobulinemia is primarily caused by mutations in the BTK gene, which is responsible for the development and maturation of B cells. B cells are a type of white blood cell that produce antibodies. In individuals with agammaglobulinemia, the maturation of B cells is arrested, leading to a significant reduction or absence of antibodies in the blood.

Types

There are several types of agammaglobulinemia, including:

• X-linked agammaglobulinemia (XLA): The most common form, caused by mutations in the BTK gene located on the X chromosome. It primarily affects males.
• Autosomal recessive agammaglobulinemia: A rarer form caused by mutations in other genes involved in B cell development.

Symptoms

Symptoms of agammaglobulinemia typically appear in infancy or early childhood and include:

• Recurrent bacterial infections, such as pneumonia, sinusitis, and otitis media
• Chronic diarrhea
• Poor growth and development

Diagnosis

Diagnosis of agammaglobulinemia involves:

• Blood tests to measure levels of immunoglobulins
• Genetic testing to identify mutations in the BTK gene or other related genes
• Flow cytometry to assess B cell numbers

Treatment

The primary treatment for agammaglobulinemia is immunoglobulin replacement therapy, which involves regular infusions of antibodies to help prevent infections. Additional treatments may include:

• Antibiotics to treat and prevent infections
• Regular monitoring by an immunologist

Prognosis

With appropriate treatment, individuals with agammaglobulinemia can lead relatively normal lives, although they remain at risk for infections and require lifelong management.

Also see

• Immunodeficiency
• X-linked recessive inheritance
• B cell
• Antibody