Health Encyclopedia

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 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:

Gastrointestinal tract
Joints
Lungs
Skin
Upper respiratory tract

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

Symptoms

Symptoms include frequent episodes of:

Bronchitis (airway infection)
Chronic diarrhea
Conjunctivitis (eye infection)
Otitis media (middle ear infection)
Pneumonia (lung infection)
Sinusitis (sinus infection)
Skin infections
Upper respiratory tract infections

Infections typically appear in the first 4 years of life.

Other symptoms include:

Bronchiectasis (a disease in which the bronchial tubes in the lungs become damaged and enlarged)
Asthma without a known cause

Exams and Tests

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

Tests include:

Flow cytometry to measure circulating B lymphocytes
Immunoelectrophoresis - serum
Quantitative immunoglobulins - IgG, IgA, IgM (usually measured by nephelometry)

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.

Support Groups

More information and support for people with agammaglobulinemia and their families can be found at:

Immune Deficiency Foundation -- primaryimmune.org
National Organization for Rare Disorders -- rarediseases.org/rare-diseases/agammaglobulinemia
NIH Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov

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:

Arthritis
Chronic sinus or pulmonary disease
Eczema
Intestinal malabsorption syndromes

When to Contact a Medical Professional

Contact your health care provider for an appointment if:

You or your child has experienced frequent infections.
You have a family history of agammaglobulinemia or another immunodeficiency disorder and you are planning to have children. Ask the provider about genetic counseling.

Prevention

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

References

Cunningham-Rundles C. Primary immunodeficiency diseases. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 236.

Pai SY, Notarangelo LD. Congenital disorders of lymphocyte function. In: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Basic Principles and Practice. 7th ed. Philadelphia, PA: Elsevier; 2018:chap 51.

Sullivan KE, Buckley RH. Primary defects of antibody production. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 150.

Review Date:1/23/2022
Reviewed By:Stuart I. Henochowicz, MD, FACP, Clinical Professor of Medicine, Division of Allergy, Immunology, and Rheumatology, Georgetown University Medical School, Washington, DC. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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