A case of X-linked agammaglobulinemia with deletion of introns 15-18 of Btk gene mediated by Alu-Alu recombination / 대한내과학회지

ABSTRACT

X-linked agammaglobulinemia (XLA) is characterized by early onset of recurrent bacterial infection, markedly reduced levels of all major classes of immunoglobulins in the serum and few mature B cells in the blood. XLA is known to be associated with mutations in Bruton's tyrosin kinase (Btk). The Btk protein consists of 5 functional domains; the pleckstrin homology (PH) domain, the Tec homology (TH) domain, the Src homology 3 (SH3) domain, the SH2 domain, and the kinase (SH1) domain. Mutations in all domains of the Btk gene have been shown to cause XLA. The large number of Alu elements within the human genome provides abundant opportunities for unequal homologous recombination events between Alu repeats, resulting in human disease. We present a case of XLA with deletion of introns 15-18 of Btk gene which were mediated by an Alu-Alu recombination event.