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A mutation in Bruton's tyrosine kinase as a cause of selective anti-polysaccharide antibody deficiency.

Abstract
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.
AuthorsP M Wood, A Mayne, H Joyce, C I Smith, D M Granoff, D S Kumararatne
JournalThe Journal of pediatrics (J Pediatr) Vol. 139 Issue 1 Pg. 148-51 (Jul 2001) ISSN: 0022-3476 [Print] United States
PMID11445810 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Protein-Tyrosine Kinases
  • Agammaglobulinaemia Tyrosine Kinase
  • Btk protein, mouse
Topics
  • Adult
  • Agammaglobulinaemia Tyrosine Kinase
  • Agammaglobulinemia (genetics, immunology)
  • Animals
  • Antibody Formation
  • Genetic Linkage
  • Humans
  • Male
  • Mice
  • Mice, Inbred CBA
  • Mutation
  • Phenotype
  • Protein-Tyrosine Kinases (genetics)
  • Vaccination
  • X Chromosome

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