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.
Bruton's agammaglobulinemia; X-linked agammaglobulinemia; Immunosuppression - agammaglobulinemia; Immunodepressed - agammaglobulinemia; Immunosuppressed - agammaglobulinemia
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
- 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)
- 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.
- 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.
These resources can provide more information on agammaglobulinemia:
- Immune Deficiency Foundation -- primaryimmune.org
- National Organization for Rare Disorders -- rarediseases.org/rare-diseases/agammaglobulinemia
- NIH/NLM Genetics Home Reference -- ghr.nlm.nih.gov/condition/x-linked-agammaglobulinemia
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:
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.
Cunningham-Rundles C. Primary immunodeficiency diseases. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 236.
Pai SY, Notarangelo LD. Congenital disorders of lymphocyte function. In: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Basic Principles and Practice. 7th ed. Philadelphia, PA: Elsevier; 2018:chap 51.
Sullivan KE, Buckley RH. Primary defects of antibody production. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 150.