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This is a PatientPlus article. PatientPlus articles are written for doctors and so the language can be technical, however some people find that they add depth to the patient information leaflets. You may find the abbreviations record helpful.

Bruton's Agammaglobulinaemia

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Bruton's agammaglobulinaemia is an X-linked immunodeficiency characterised by failure to produce mature B lymphocyte cells and is associated with a failure of immunoglobulin heavy chain rearrangement.

Epidemiology
  • The incidence is approximately 1 in 250,000 but this may be an underestimate.
  • One third of cases are thought to arise from new mutations.
Presentation
  • Most likely to be diagnosed when unusually severe or recurrent respiratory tract infections occur in a male infant.
  • The most common infections are due to Streptococcus pneumoniae, Haemophilus influenzae type b, Staphylococcus, Neisseria meningitidis and Moraxella catarrhalis.
  • The infant may also present with persistent diarrhoea and failure to thrive.
  • Diarrhoea is often caused by Giardia and Campylobacter.
  • Enteroviral infections are potentially fatal, including those due to the attenuated vaccine strain of poliovirus.
  • Herpes simplex infections are more likely to be recurrent.
  • Patients can defend against other viruses such as measles and varicella.
  • Family history is important as about one third of patients have an affected family member. Female carriers have no clinical manifestations.
Differential Diagnosis
  • Other causes of hypogammaglobulinaemia
  • T-Cell disorders
  • Severe Combined Immunodeficiency
  • X-linked Immunodeficiency with Hyper IgM
  • Lymphoproliferative disorders
  • Cystic fibrosis and other causes of severe, recurrent respiratory tract infections
Investigations
  • Quantitative measurements of immunoglobulins
  • Confirmation requires low or absent expression of CD19 lymphocytes and normal or increased numbers of mature T lymphocytes.
  • Specific IgG antibody responses to T cell dependent and T cell independent antigens administered as immunisations.
  • Liver function tests are recommended at yearly intervals to monitor for autoimmune hepatitis and hepatitis C.
  • Respiratory function tests in older children, to monitor the progressive nature of chronic lung disease. Both restrictive and obstructive chronic lung disease may occur.
  • Upper and lower gastrointestinal endoscopy to assess the extent of inflammatory bowel disease.
  • Prenatal diagnosis is possible for families known to carry a mutated gene.
Associated Diseases
  • Autoimmune disorders such as arthritis, autoimmune haemolytic anaemia, autoimmune thrombocytopenia, and autoimmune neutropenia may be associated either at presentation or develop later.
  • Increased incidence of allergic diseases, e.g. atopic dermatitis, allergic rhinitis, asthma.
  • Increased risk malignancy, especially lymphomas and gastrointestinal malignancy.
  • Inflammatory bowel disease is usually chronic.
  • Hypogammaglobulinaemia is also associated with a high incidence of hepatitis.1
Management
  • The mainstay of treatment is intravenous immunoglobulin, which decreases and delays both morbidity and mortality.2
  • Antibiotic therapy is required at high dosage and for a longer duration of therapy than is usually recommended. Inhaled bronchodilators and steroids are usually required.
  • Sinusitis is chronic in older patients and is treated with nasal steroids, saline nasal sprays, and often requires surgical intervention.
  • Chronic eczema is treated in the usual way with moisturising creams and topical steroids but has a high risk of bacterial infection.
  • Chronic lung disease may require surgical intervention.
Complications
  • Chronic lung disease, e.g. bronchiectasis
  • Chronic infection, including chronic enteroviral infection of the central nervous system
Prognosis
  • Viral and pulmonary infections cause more than 90% of mortalities.
  • Patients who begin immunoglobulin replacement therapy before the age of 5 years have a more prolonged survival and decreased morbidity.
  • Some patients now survive into their late forties.
Prevention

Gene therapy is not yet available and stem cell transplantation is not considered appropriate because of its risk and because of improved outcomes with immunoglobulin replacement therapy.


Document References
  1. Hermaszewski RA, Webster AD; Primary hypogammaglobulinaemia: a survey of clinical manifestations and complications. Q J Med. 1993 Jan;86(1):31-42. [abstract]
  2. Skull S, Kemp A; Treatment of hypogammaglobulinaemia with intravenous immunoglobulin, 1973-93. Arch Dis Child. 1996 Jun;74(6):527-30. [abstract]

Internet and Further Reading
  • Chin T; Bruton's Agammaglobulinaemia. eMedicine November 2006.
  • OMIM - Bruton Agammaglobulinaemia
Acknowledgements EMIS is grateful to Dr Colin Tidy for writing this article. The final copy has passed scrutiny by the independent Mentor GP reviewing team. ©EMIS 2007.
DocID: 1892
Document Version: 20
DocRef: bgp1354
Last Updated: 2 Oct 2007
Review Date: 1 Oct 2009

The authors and editors of this article are employed to create accurate and up to date content reflecting reliable research evidence, guidance and best clinical practice. They are free from any commercial conflicts of interest. Find out more about updating.

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