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.

  • The incidence is approximately 1 in 250,000 but this may be an underestimate.[1]
  • One third of cases are thought to arise from new mutations.
  • 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.
  • Imaging studies include chest X-ray and CT scans of the sinuses and lungs.
  • Bronchoscopy.
  • 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.
  • The mainstay of treatment is intravenous immunoglobulin, which decreases and delays both morbidity and mortality.[3]
  • 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.
  • Chronic lung disease, eg bronchiectasis.
  • Chronic infection, including chronic enteroviral infection of the central nervous system.
  • 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 rate and decreased morbidity.
  • Some patients now survive into their late forties.

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.

Further reading and references

  1. Chin T; Bruton Agammaglobulinaemia, eMedicine, Sept 2008

  2. Hermaszewski RA, Webster AD; Primary hypogammaglobulinaemia: a survey of clinical manifestations and complications. Q J Med. 1993 Jan86(1):31-42.

  3. Skull S, Kemp A; Treatment of hypogammaglobulinaemia with intravenous immunoglobulin, 1973-93. Arch Dis Child. 1996 Jun74(6):527-30.

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