X linked agammaglobulinaemia with a 'leaky' phenotype.
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.
Jones
A
A
Molecular Immunology Unit, Institute of Child Health, London.
Bradley
L
L
Alterman
L
L
Tarlow
M
M
Thompson
R
R
Kinnon
C
C
Morgan
G
G
D000361:Agammaglobulinemia / Q000235:genetics*; D002675:Child, Preschool; D004303:Dosage Compensation, Genetic; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010641:Phenotype; D011505:Protein-Tyrosine Kinases / Q000235:genetics; D014960:X Chromosome
D011505:Protein-Tyrosine Kinases