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Agammaglobulinemia

Overview

This is an inherited disorder characterized by very low levels of protective immunoglobulins. People suffering from this condition develop repeated infections. Agammaglobulinemia is a rare disorder that mainly affects males.


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Causes

Agammaglobulinemia is inherited as an X-linked recessive trait in which an inborn error blocks B-cell differentiation, causing the body to produce very little (if any) gamma globulin (IgG) and other immunoglobulins in the bloodstream. Immunoglobulins are molecules that play a significant role in the immune response, which protects against illness and infection. In the absence of protective immunoglobulins, affected individuals develop repeated infections. People with this disorder are particularly susceptible to Hemophilus influenza, pneumococcus infections, staphylococcus infections and repeated viral infections. The upper respiratory tract, lungs, and skin are common sites of infection.


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Signs & Symptoms

The main symptoms of the condition are frequent infections, which may begin early or have a delayed onset. The person may experience frequent episodes of sinusitis, conjunctivitis, pneumonia, bronchitis, skin infections and chronic diarrhea. These frequent infections may begin early or later in life.

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Prevention

Genetic counseling may be provided to prospective parents with a family history of agammaglobulinemia or other immunodeficiency disorders, thus preparing them for intervention at an early stage.


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Treatments
Antibiotic medications Modern Medicine

The goal of treatment is to reduce the number and severity of infections. Intramuscular injections of immune serum globulin (gamma globulin injections) help to boost the immune system. Infusions of blood plasma into a vein gives a quick supplement to the immune system (plasma contains antibodies, including IgG, IgM, andIgA) . High doses of high titer gammaglobulin are needed for severe infections. Antibiotics are available for the treatment of bacterial infections. Without treatment, most severe infections are fatal.

Genetic counselling Psychotherapy

Qualified genetic counselors conduct genetic tests, evaluate the family history and medical records of parents to identify the possibility of their passing any genetic disorders to their baby. Genetic counselling can identify disorders caused by a defect in the genes, which could be passed in the family.

Genetic counseling also involves educating the affected couple to understand the nature of the genetic disorder, counseling and psychological support and providing the necessary information on support groups and services to manage the genetic condition.

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