A mutation in Bruton's tyrosine kinase as a cause of selective anti-polysaccharide antibody deficiency.
Children and adults can have recurrent infection with invasive encapsulated bacterial pathogens such as Streptococcus pneumoniae as a result of a selective inability to respond to polysaccharide antigens. We have identified a mutation in the gene encoding Bruton's tyrosine kinase in a male patient with selective anti-polysaccharide antibody deficiency.
Wood
P M
PM
MRC Centre for Immune Regulation, Birmingham University, Birmingham, United Kingdom.
Mayne
A
A
Joyce
H
H
Smith
C I
CI
Granoff
D M
DM
Kumararatne
D S
DS
D000328:Adult; D000077329:Agammaglobulinaemia Tyrosine Kinase; D000361:Agammaglobulinemia / Q000235:genetics* / Q000276:immunology; D000818:Animals; D000917:Antibody Formation; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D051379:Mice; D008808:Mice, Inbred CBA; D009154:Mutation; D010641:Phenotype; D011505:Protein-Tyrosine Kinases / Q000235:genetics*; D014611:Vaccination; D014960:X Chromosome
D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase; C000625951:Btk protein, mouse