title: A novel mutation leading to a deletion in the SH3 domain of Bruton's tyrosine kinase.
abstract: X-linked agammaglobulinemia (XLA) is a primary B cell immunodeficiency disorder, caused by a defect in the Bruton tyrosine kinase (BTK) gene. Here, we describe a novel four base pair mutation (838delGAGT) in intron 9 of the BTK gene leading to the skipping of exon 9 in a 2.5-year-old boy with this disorder.
authors.affiliation: Immunology Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: Lütfiye
authors.initials: L
authors.lastname: Mesci
authors.forename: Hilal
authors.initials: H
authors.lastname: Ozdag
authors.forename: Tuba
authors.initials: T
authors.lastname: Turul
authors.forename: Fügen
authors.initials: F
authors.lastname: Ersoy
authors.forename: Ilhan
authors.initials: I
authors.lastname: Tezcan
authors.forename: Ozden
authors.initials: O
authors.lastname: Sanal
mesh_terms: D000077329:Agammaglobulinaemia Tyrosine Kinase; D000361:Agammaglobulinemia / Q000201:enzymology / Q000235:genetics*; D002675:Child, Preschool; D041321:Chromosomes, Human, X; D005091:Exons / Q000235:genetics; D008040:Genetic Linkage; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D011505:Protein-Tyrosine Kinases / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D018909:src Homology Domains
chemical_list: D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase; C000625949:BTK protein, human