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, cilt.47, ss.24-31, 2019 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 47 Konu: 1
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1016/j.aller.2018.03.004
  • Dergi Adı: ALLERGOLOGIA ET IMMUNOPATHOLOGIA
  • Sayfa Sayısı: ss.24-31

Özet

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.