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 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 47 Issue: 1
  • Publication Date: 2019
  • Doi Number: 10.1016/j.aller.2018.03.004
  • Journal Name: ALLERGOLOGIA ET IMMUNOPATHOLOGIA
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.24-31
  • Keywords: Bruton tyrosine kinase, Genotype-phenotype correlation, X-linked agammaglobulinemia, MOLECULAR ANALYSIS, SCLERODERMA, PHENOTYPE, FEATURES, CHILDREN
  • Çukurova University Affiliated: Yes

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.