A novel mutation leading to a deletion in the SH3 domain of Bruton's tyrosine kinase.
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.
Mesci
Lütfiye
L
Immunology Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Ozdag
Hilal
H
Turul
Tuba
T
Ersoy
Fügen
F
Tezcan
Ilhan
I
Sanal
Ozden
O
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
D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase; C000625949:BTK protein, human