Clinical and genetic profiles of patients with X-linked agammaglobulinemia from southeast Turkey: Novel mutations in BTK gene


Dogruel D. , Serbes M., Sasihuseyinoglu A. S. , Yilmaz M., Altintas D. U. , Bisgin A.

ALLERGOLOGIA ET IMMUNOPATHOLOGIA, vol.47, no.1, pp.24-31, 2019 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 47 Issue: 1
  • Publication Date: 2019
  • Doi Number: 10.1016/j.aller.2018.03.004
  • Title of Journal : ALLERGOLOGIA ET IMMUNOPATHOLOGIA
  • Page Numbers: pp.24-31

Abstract

Background: X-linked agammaglobulinemia (XLA) is characterized by absent or severely reduced B cells, low or undetectable immunoglobulin levels, and clinically by extracellular bacterial infections which mainly compromise the respiratory tract. We aimed to analyze the clinical, immunological and genetic characteristics of 22 male children with XLA.