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Agammaglobulinemia
Definition
Agammaglobulinemia is 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.
Alternative Names
Bruton's agammaglobulinemia; X-linked agammaglobulinemia
Causes
Agammaglobulinemia 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 in the bloodstream. Immunoglobulins play a major role in the immune response, which protects against illness and infection.
Persons with agammaglobulinemia repeatedly develop infections, especially bacterial infections such as Hemophilus 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
- Chronic diarrhea
- Conjunctivitis (eye infection)
- Otitis media (middle ear infection)
- Pneumonia
- Sinusitis
- 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)
- Unexplained asthma
Exams and Tests
The disorder is confirmed by laboratory measurement of blood 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. You will receive immunoglobulins through a vein (IVIG), which boosts your immune system.
Antibiotics are often needed to treat bacterial infections.
Genetic counseling may be helpful.Outlook (Prognosis)
Treatment with IVIG has greatly improved the health of those who have agammaglobulinemia.
Without treatment, most severe infections are deadly.
Possible Complications
- 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.
References
Ballow M. Primary immunodeficiency diseases. In: Goldman L, Schafer AI, eds. Cecil Medicine. 24th ed. Philadelphia, PA: Saunders Elsevier;2011:chap 258.
Morimoto Y. Immunodeficiency overview. Prim Care. 2008;35(1):159-173.
Reviewed By: David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine. Stuart I. Henochowicz, MD, FACP, Associate Clinical Professor of Medicine, Division of Allergy, Immunology, and Rheumatology, Georgetown University Medical School. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M. Health Solutions, Ebix, Inc.
