Analysis of Brutons Tyrosine Kinase Deficiency in Patients with Presumed X-Linked Agammaglobulinemia

Abstract

AJ Alvarez-Marquez, C Abad-Molina, MA Montes-Cano, A Nunez-Roldan, B Sanchez

X-linked agammaglobulinemia (XLA) is a fully penetrant X-linked recessive disorder characterized by the early onset of recurrent bacterial infections, profound hypogammaglobulinemia and a marked decrease in the number of B-lymphocytes [1]. The gene defective in XLA has been identified as a non-receptor proteine tyrosine kinase, BTK (Bruton´s tyrosine kinase) [2,3].

PDF