Agammaglobulinemia

 

Alternative Names

Bruton's agammaglobulinemia; X-linked agammaglobulinemia

Definition

Agammaglobulinemia is a disorder passed down through families 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.

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.

Persons with agammaglobulinemia 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:

Infections typically appear in the first 4 years of life.

Other symptoms include:

  • Bronchiectasis (a disease in which the small air sacs in the lungs become damaged and enlarged)
  • Unexplained asthma

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. You will receive immunoglobulins through a vein (IVIG) or subcutaneously (SCIG), which boosts your immune system.

Antibiotics are often needed to treat bacterial infections.

Genetic counseling may be helpful.

Outlook (Prognosis)

Treatment with IVIG or SCIG has greatly improved the health of those who have agammaglobulinemia.

Without treatment, most severe infections are deadly.

Possible Complications


When to Contact a Medical Professional

Call for an appointment with your health care provider 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

Ballow M. Primary immunodeficiency diseases. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 24th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 258.

Pai SY, Notarangelo LD. Congenital disorders of lymphocyte function. In: Hoffman R, Benz EJ Jr, Silberstein LE, et al., eds. Hematology: Basic Principles and Practice. 6th ed. Philadelphia, PA: Elsevier Saunders; 2012:chap 49.

Review Date: 5/12/2014
Reviewed By: Stuart I. Henochowicz, MD, FACP, Associate Clinical Professor of Medicine, Division of Allergy, Immunology, and Rheumatology, Georgetown University Medical School, Washington, DC. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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