Agammaglobulinemia


Definition

Agammaglobulinemia is an inherited disorder in which a person has very low levels of protective immune system proteins called immunoglobulins. Immunoglobulins are a type of antibody. Low levels of these antibodies make you more likely to get infections.

Alternative Names

Bruton's agammaglobulinemia; X-linked agammaglobulinemia; Immunosuppression - agammaglobulinemia; Immunodepressed - agammaglobulinemia; Immunosuppressed - agammaglobulinemia

Causes

This EM Should be displayed at the top of the article section "Causes"

This is a rare disorder that mainly affects males. 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.

People with this disorder develop infections again and again. Common infections include ones that are due to bacteria such as Haemophilus influenzae, pneumococci (Streptococcus pneumoniae), and staphylococci. Common sites of infection include:

Agammaglobulinemia is inherited, which means other people in your family may have the condition.

Symptoms

Symptoms include frequent episodes of:

Infections typically appear in the first 4 years of life.

Other symptoms include:

Exams and Tests

The disorder is confirmed by blood tests that measure levels of immunoglobulins.

Tests include:

Treatment

Treatment involves taking steps to reduce the number and severity of infections. Antibiotics are often needed to treat bacterial infections.

Immunoglobulins are given through a vein or by injection to boost the immune system.

A bone marrow transplant may be considered.

Outlook (Prognosis)

Treatment with immunoglobulins has greatly improved the health of those who have this disorder.

Without treatment, most severe infections are deadly.

Possible Complications

Health problems that may result include:

When to Contact a Medical Professional

Call for an appointment with your health care provider if:

Prevention

Genetic counseling should be offered to prospective parents with a family history of agammaglobulinemia or other immunodeficiency disorders.

References

Buckley RH. Primary defects of antibody production. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 124.

Cunningham-Rundles C. Primary immunodeficiency diseases. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 250.

Pai SY, Notarangelo LD. Congenital disorders of lymphocyte function. In: Hoffman R, Benz EJ Jr, Silberstein LE, Heslop HE, Weitz JI, Anastasi J, eds. Hematology: Basic Principles and Practice. 6th ed. Philadelphia, PA: Elsevier Saunders; 2013:chap 49.

A.D.A.M. content is best viewed in IE9 or above, Firefox and Google Chrome browser.