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, sa.1, ss.24-31, 2019 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 47 Sayı: 1
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1016/j.aller.2018.03.004
  • Dergi Adı: ALLERGOLOGIA ET IMMUNOPATHOLOGIA
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.24-31
  • Anahtar Kelimeler: Bruton tyrosine kinase, Genotype-phenotype correlation, X-linked agammaglobulinemia, MOLECULAR ANALYSIS, SCLERODERMA, PHENOTYPE, FEATURES, CHILDREN
  • Çukurova Üniversitesi Adresli: Evet

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.