Bruton's agammaglobulinemia

What is Bruton's agammaglobulinemia

Bruton's agammaglobulinemia (also known as "Bruton's disease", X-linked agammaglobulinemia, and XLA) is a rare, inherited immunodeficiency disease which impairs the body's ability to produce antibodies, leaving the patient vulnerable to certain infections. It is caused by mutation of the Bruton's tyrosine kinase gene, resulting in a deficiency of B lymphocytes. It is currently the only known X-linked immunodeficiency disorder.

Symptoms of Bruton's agammaglobulinemia

Individuals with Bruton's agammaglobulinemia may have a variety of immunodeficiency-related symptoms, including:

Frequent and recurrent bacterial infections, particularly of the ears, lungs, and sinuses, and more rarely of the urinary tract.
Chronic diarrhea or inflammatory bowel disease.
Delayed physical and motor development.
Organ-specific autoimmunity, such as hemolytic anemia, thrombocytopenia (low platelet count) and neutropenia.
Skin and respiratory problems such as dermatitis, eczema, and asthma.

Diagnosis of Bruton's agammaglobulinemia

The diagnosis of Bruton's agammaglobulinemia is based on a combination of the patient's symptoms, history, physical examination, laboratory tests, imaging studies, and other tests. Laboratory tests may include a complete blood count (CBC) with differential, which may show a decrease in B lymphocytes. Other diagnostic tests may include a lymphocyte subset analysis, immunoglobulin level measurements, X-ray or CT scan of the chest, and an analysis of the quantity and function of antibodies.

Treatment of Bruton's agammaglobulinemia

The primary treatment for Bruton's agammaglobulinemia is lifelong replacement therapy with intravenous immunoglobulin (IVIG) to help the patient's body fight infections. In addition, antibiotics may be prescribed to help reduce the frequency and severity of infections. Treatment may also include vaccinations against certain bacteria, and supportive care.