The Turkish Journal of Pediatrics
2006 , Vol 48 , Num 4
A novel mutation leading to a deletion in the SH3 domain of Bruton’s tyrosine kinase
1Immunology Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey2Currently, Department of Oncology, Hutchison-MRC Research Centre, University of Cambridge, Cambridge, United Kingdom Mesci L, Özdağ H, Turul T, Ersoy F, Tezcan İ, Sanal Ö. A novel mutation leading to a deletion in the SH3 domain of Bruton’s tyrosine kinase. Turk J Pediatr 2006; 48: 362-364.
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.
Keywords : X-linked agammaglobulinemia, Bruton’s tyrosine kinase, mutation