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.
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.
