What is Bruton disease?

What is Bruton disease?

X-linked agammaglobulinemia (XLA), also known as Bruton’s disease, is a primary immunodeficiency disorder caused by the deficiency of Bruton’s tyrosine kinase (BTK) (1). BTK is critical in the maturation of pre-B cells to mature B cells (2,3).

How is XLA treated?

Medications to treat XLA include:

1. Gammaglobulin. This is a type of protein found in blood that contains antibodies against infections. It’s given by infusion into a vein every two to four weeks or by weekly injection.
2. Antibiotics. Some people with XLA receive continuous antibiotics to prevent infections.

What is the cause of agammaglobulinemia?

It is caused by a gene defect that blocks the growth of normal, mature immune cells called B lymphocytes. As a result, the body makes very little (if any) immunoglobulins. Immunoglobulins play a major role in the immune response, which protects against illness and infection.

How is XLA diagnosed?

The diagnosis of XLA can be confirmed by demonstrating the absence of BTK protein in monocytes or platelets or by the detection of a mutation in BTK in DNA. Almost every family has a different mutation in BTK; however, members of the same family usually have the same mutation.

How does agammaglobulinemia affect the body?

The most common bacterial infections that occur in people with XLA are lung infections (pneumonia and bronchitis), ear infections (otitis), pink eye (conjunctivitis), and sinus infections (sinusitis). Infections that cause chronic diarrhea are also common. Recurrent infections can lead to organ damage.

What method drugs we are use in treatment of Bruton’s syndrome?

Treatment for XLA is IVIG. Typical doses are 400-600 mg/kg/mo given every 3-4 weeks. Doses and intervals can be adjusted based on individual clinical responses. Therapy should begin at age 10-12 weeks.

What causes Bruton’s disease?

Frequently called Bruton’s Agammaglobulinemia, XLA is caused by a genetic mistake in a gene called Bruton’s tyrosine kinase (BTK), which prevents B cells from developing normally. B cells are responsible for producing the antibodies that the immune system relies on to fight off infection.

What is the pathophysiology of Bruton disease?

X-linked agammaglobulinemia (Bruton’s disease) is a rare disease characterized by marked decrease in all classes of immunoglobulins and absence of circulating B cells and plasma cells. The affected boys frequently present with recurrent respiratory tract infections after 6 months to 2 years of age. …

What is Bruton’s agammaglobulinemia?

Bruton agammaglobulinemia, also known as X-linked agammaglobulinemia (XLA) or Bruton’s agammaglobulinemia, is an inherited immunodeficiency disorder. It is characterized by the absence of mature B cells which in turn leads to severe antibody deficiency and recurrent infections.

What is the prevalence of Bruton’s disease?

The frequency of Bruton’s disease has been estimated as 1 per 200,000 live births. Prevalence is approximately 1 per 10,000. The prevalence of XLA varies in different countries obtained from published reports. Based on national registries, the prevalence was ranging between 0.09 and 11.25 per 100,000 population [ 13 – 17 ].

What is the prognosis of XLA with Bruton kinase mutation?

Although the relationship between the Bruton kinase mutation and the development of malignant tumors is unknown, XLA patients seem to be at risk for colorectal cancer and lymphoid malignancies. B-cell precursor acute lymphoblastic leukemia (BCP-ALL) has been reported in a case with XLA.

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