Agammaglobulinemia
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Definition
Agammaglobulinemia is an inherited disorder in which there are very low levels of protective immune system proteins called immunoglobulins. People with this disorder repeatedly develop infections.
Alternative Names
Bruton's agammaglobulinemia; X-linked agammaglobulinemia
Causes, incidence, and risk factors
Agammaglobulinemia is a rare disorder that mainly affects males. It is the result of a genetic abnormality that blocks the development of normal, mature immune system cells called B lymphocytes.
As a result, the body produces very little (if any) immunoglobulins in the bloodstream. Immunoglobulins play a major role in the immune response, which protects against illness and infection.
Without protective immunoglobulins, people with agammaglobulinemia repeatedly develop infections. People with this disorder are particularly susceptible to bacterial infections caused by Haemophilus influenzae, pneumococci (Streptococcus pneumoniae), and staphylococci, as well as to repeated viral infections. Common sites of infection include:
People with this condition may have a family history of agammaglobulinemia (or another immune disorder).
References
Azar AE. Evaluation of the adult with suspected immunodeficiency. Am J Med. 2007;120(9):764-768.
Ballow M. Primary immunodeficiency diseases. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier;2007:chap 271.
Morimoto Y. Immunodeficiency overview. Prim Care. 2008;35(1):159-173.
Review Date: 5/16/2010
Reviewed By: David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; and 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., Inc.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
Alternative Names
Bruton's agammaglobulinemia; X-linked agammaglobulinemia
Symptoms
Symptoms include frequent episodes of:
- 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
Signs and tests
The disorder is confirmed by laboratory measurement of blood immunoglobulins.
Tests include:
References
Azar AE. Evaluation of the adult with suspected immunodeficiency. Am J Med. 2007;120(9):764-768.
Ballow M. Primary immunodeficiency diseases. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier;2007:chap 271.
Morimoto Y. Immunodeficiency overview. Prim Care. 2008;35(1):159-173.
Review Date: 5/16/2010
Reviewed By: David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; and 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., Inc.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
Alternative Names
Bruton's agammaglobulinemia; X-linked agammaglobulinemia
Treatment
The goal of treatment is to reduce the number and severity of infections, and to provide genetic counseling to affected families.
Receiving immunoglobulins (IVIG) through a vein (intravenously) helps boost the immune system by providing the body with the antibodies that are decreased or missing. Routine treatment with IVIG is central to the treatment of this disorder.
Antibiotics are often needed to treat bacterial infections.
Expectations (prognosis)
Treatment with IVIG has greatly improved the health of people with agammaglobulinemia. Without treatment, most severe infections are fatal.
Complications
Calling your health care provider
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)
References
Azar AE. Evaluation of the adult with suspected immunodeficiency. Am J Med. 2007;120(9):764-768.
Ballow M. Primary immunodeficiency diseases. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier;2007:chap 271.
Morimoto Y. Immunodeficiency overview. Prim Care. 2008;35(1):159-173.
Review Date: 5/16/2010
Reviewed By: David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; and 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., Inc.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
Alternative Names
Bruton's agammaglobulinemia; X-linked agammaglobulinemia
Prevention
Genetic counseling should be offered to prospective parents with a family history of agammaglobulinemia or other immunodeficiency disorders.
References
Azar AE. Evaluation of the adult with suspected immunodeficiency. Am J Med. 2007;120(9):764-768.
Ballow M. Primary immunodeficiency diseases. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier;2007:chap 271.
Morimoto Y. Immunodeficiency overview. Prim Care. 2008;35(1):159-173.
Review Date: 5/16/2010
Reviewed By: David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; and 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., Inc.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
Review Date: 5/16/2010
Reviewed By: David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; and 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., Inc.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.