Answer the following things about X-linked agammaglobulinemia (XLA): Causes (include b cell pathway) Symptoms and pathology...

Answer the following things about X-linked agammaglobulinemia (XLA):

Causes (include b cell pathway)

Symptoms and pathology

The prognosis (with and without treatment) and possible treatments (not cures)

Expert Solution

X-linked agammaglobulinemia is a genetic disorder related to immune system results in reduction of ability to fight infections. Infections of the inner ear, sinuses, respiratory tract, bloodstream and internal organs are the common outcomes in this disease. The mutation in gene coding for Bruton tyrosine kinase (BTK) is the causing reason of this disorder. This gene is responsible for maturation of Pro-B-Cells to Pre-B-cells. So there is deficiency of immunoglobulins in people with this disorder.

This disorder affects mainly males but females can be genetic carriers of the same. XLA can be diagnosed in infancy or early childhood, due to occurence of repeated infections in people.The infants with this disorder generally have very small tonsils and small or no lymph nodes.

Treatment: immunoglobulin replacement therapy is one of the method for treatment that reduce the chances of bacterial infections to a greater extent. Intravenous immunoglobulin (IVIG) therapy also work in same way as replacement therapy and has proven to be more effective. For ongoing or active infections antibiotics should be used simultaneously.

Hematopoietic stem cell transplantation (HSCT) is also an option but lesser safe due to high chance of rejection of grafts.

gladiator answered 1 year ago

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