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.
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:
Upper respiratory tract
Agammaglobulinemia is inherited, which means other people in your family may have the condition.
Symptoms include frequent episodes of:
Bronchitis (airway infection)
Conjunctivitis (eye infection)
Otitis media (middle ear infection)
Pneumonia (lung infection)
Sinusitis (sinus infection)
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.
Flow cytometry to measure circulating B lymphocytes
Immunoelectrophoresis – serum
Quantitative immunoglobulins – IgG, IgA, IgM (usually measured by nephelometry)
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.
Treatment with immunoglobulins has greatly improved the health of those who have this disorder.
Without treatment, most severe infections are deadly.
Health problems that may result include:
Chronic sinus or pulmonary disease
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.
Genetic counseling should be offered to prospective parents with a family history of agammaglobulinemia or other immunodeficiency disorders.
Bruton’s agammaglobulinemia; X-linked agammaglobulinemia; Immunosuppression – agammaglobulinemia; Immunodepressed – agammaglobulinemia; Immunosuppressed – agammaglobulinemia
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.
Review Date 3/20/2016
Updated 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.
Immune System and Disorders
Latest Health News
Health Topics A-Z
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 1997-2017, A.D.A.M., Inc. Duplication for commercial use must be authorized in writing by ADAM Health Solutions.
OMB Control Number: 0925-0648. Expiration Date: March 31, 2018
Public reporting burden for this collection of information is estimated to average 1 minute per response, including the time for reviewing instructions, searching existing data sources, gathering and maintaining the data needed, and completing and reviewing the collection of information. An agency may not conduct or sponsor, and a person is not required to respond to, a collection of information unless it displays a currently valid OMB control number. Send comments regarding this burden estimate or any other aspect of this collection of information, including suggestions for reducing this burden, to: NIH, Project Clearance Branch, 6705 Rockledge Drive, MSC 7974, Bethesda, MD 20892-7974, ATTN: PRA (0925-0648). Do not return the completed form to this address.