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Agammaglobulinemia

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

 

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.

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 small air sacs 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.

 

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

 

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 .

 

 

Open References

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.

 
  • Antibodies

    Antibodies - illustration

    Antigens are large molecules (usually proteins) on the surface of cells, viruses, fungi, bacteria, and some non-living substances such as toxins, chemicals, drugs, and foreign particles. The immune system recognizes antigens and produces antibodies that destroy substances containing antigens.

    Antibodies

    illustration

    • Antibodies

      Antibodies - illustration

      Antigens are large molecules (usually proteins) on the surface of cells, viruses, fungi, bacteria, and some non-living substances such as toxins, chemicals, drugs, and foreign particles. The immune system recognizes antigens and produces antibodies that destroy substances containing antigens.

      Antibodies

      illustration

    Tests for Agammaglobulinemia

     
       

      Review Date: 3/20/2016

      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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