Abstract
A susceptibility gene in the MHC class III region may underlie the defective B-cell differentiation in familial IgA deficiency and common variable immunodeficiency. Mutations in Bruton's tyrosine kinase, immunoglobulin heavy chain and lambda 5/14.1 surrogate light chain loci disrupt B-cell development to cause profound antibody deficiency. Mutational, biochemical and transgenic studies offer insight into the function of these and other 'antibody deficiency genes'.
MeSH terms
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Agammaglobulinaemia Tyrosine Kinase
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Agammaglobulinemia / genetics
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Animals
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B-Lymphocytes / cytology*
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Cell Differentiation
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Common Variable Immunodeficiency / genetics*
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Humans
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IgA Deficiency / genetics*
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Immunoglobulin Heavy Chains / genetics
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Immunoglobulin Light Chains
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Immunoglobulin Light Chains, Surrogate
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Immunoglobulin mu-Chains / genetics
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Membrane Glycoproteins / genetics
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Mice
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Protein-Tyrosine Kinases / genetics
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Protein-Tyrosine Kinases / metabolism
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X Chromosome
Substances
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Immunoglobulin Heavy Chains
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Immunoglobulin Light Chains
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Immunoglobulin Light Chains, Surrogate
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Immunoglobulin mu-Chains
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Membrane Glycoproteins
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Protein-Tyrosine Kinases
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Agammaglobulinaemia Tyrosine Kinase
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Btk protein, mouse