Bruton's agammaglobulinemia; X-linked agammaglobulinemia; Immunosuppression - agammaglobulinemia; Immunodepressed - agammaglobulinemia; Immunosuppressed - agammaglobulinemia DefinitionAgammaglobulinemia 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. CausesThis 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:
Agammaglobulinemia is inherited, which means other people in your family may have the condition. SymptomsSymptoms include frequent episodes of:
Infections typically appear in the first 4 years of life. Other symptoms include:
Exams and TestsThe disorder is confirmed by blood tests that measure levels of immunoglobulins. Tests include:
TreatmentTreatment 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. Support GroupsMore information and support for people with agammaglobulinemia and their families can be found at:
Outlook (Prognosis)Treatment with immunoglobulins has greatly improved the health of those who have this disorder. Without treatment, most severe infections are deadly. Possible ComplicationsHealth problems that may result include:
When to Contact a Medical ProfessionalContact your health care provider for an appointment if:
PreventionGenetic counseling should be offered to prospective parents with a family history of agammaglobulinemia or other immunodeficiency disorders. ReferencesCunningham-Rundles C. Primary immunodeficiency diseases. In: Goldman L, Cooney KA, eds. Goldman-Cecil Medicine. 27th ed. Philadelphia, PA: Elsevier; 2024:chap 231. Hernandez-Trujillo VP, Ortega C. B-cell and antibody deficiencies. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 166. Pai SY, Notarangelo LD. Congenital disorders of lymphocyte function. In: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Basic Principles and Practice. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 52. | |
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Review Date: 3/31/2024 Reviewed By: Deborah Pedersen, MD, MS, Allergy & Asthma Care, PC, Taunton, MA. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. No warranty of any kind, either expressed or implied, is made as to the accuracy, reliability, timeliness, or correctness of any translations made by a third-party service of the information provided herein into any other language. © 1997- A.D.A.M., a business unit of Ebix, Inc. Any duplication or distribution of the information contained herein is strictly prohibited. | |
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Antibodies
