Archives of Disease in Childhood · 1996 · 22 citations · 7 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsImmunogeneticsMedical GeneticsB Cell ActivationB Cell BiologyB Cell DevelopmentGenetic DisordersImmunodeficiency DisordersImmunoglobulin DisordersB-cell DisordersB-cell ImmunophenotypesImmunoglobulin ProductionPedigree InterpretationReceptor Tyrosine Kinase ActivationX-linked AgammaglobulinemiaX-linked Dominant InheritanceX-linked Immunodeficiency
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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