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X linked agammaglobulinaemia with a 'leaky' phenotype.
  1. A Jones,
  2. L Bradley,
  3. L Alterman,
  4. M Tarlow,
  5. R Thompson,
  6. C Kinnon,
  7. G Morgan
  1. Molecular Immunology Unit, Institute of Child Health, London.

    Abstract

    Typical X linked agammaglobulinaemia (XLA) is characterised by absence of immunoglobulin production and lack of mature B cells. The gene responsible for XLA has recently been identified, and codes for a B cell tyrosine kinase, BTK. A family affected by a B cell immunodeficiency, which is less severe than classical XLA, is described but they had a pedigree suggestive of X linked inheritance. Demonstration of a mutation in the BTK gene confirms that this is a mild form of XLA.

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