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, Turkey
2Currently, 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

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