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.
Copyright and license
Copyright © 2006 The Author(s). This is an open access article distributed under the Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is properly cited.
How to cite
1.
Mesci L, Ozdag H, Turul T, Ersoy F, Tezcan I, Sanal O. A novel mutation leading to a deletion in the SH3 domain of Bruton’s tyrosine kinase. Turk J Pediatr 2006; 48: 362-364.
