Genetic basis of abnormal B cell development.
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'.
Conley
M E
ME
Department of Pediatrics, University of Tennessee School of Medicine, Memphis 38105, USA.
Cooper
M D
MD
D000077329:Agammaglobulinaemia Tyrosine Kinase; D000361:Agammaglobulinemia / Q000235:genetics; D000818:Animals; D001402:B-Lymphocytes / Q000166:cytology*; D002454:Cell Differentiation; D017074:Common Variable Immunodeficiency / Q000235:genetics*; D006801:Humans; D017098:IgA Deficiency / Q000235:genetics*; D007143:Immunoglobulin Heavy Chains / Q000235:genetics; D007147:Immunoglobulin Light Chains; D054444:Immunoglobulin Light Chains, Surrogate; D007148:Immunoglobulin mu-Chains / Q000235:genetics; D008562:Membrane Glycoproteins / Q000235:genetics; D051379:Mice; D011505:Protein-Tyrosine Kinases / Q000235:genetics / Q000378:metabolism; D014960:X Chromosome
D007143:Immunoglobulin Heavy Chains; D007147:Immunoglobulin Light Chains; D054444:Immunoglobulin Light Chains, Surrogate; D007148:Immunoglobulin mu-Chains; D008562:Membrane Glycoproteins; D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase; C000625951:Btk protein, mouse