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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:

      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)
      • Asthma without a known cause
  • Exams and Tests
  • 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
  • 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
    • 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.