Clinical and genetic features of the patients with X-Linked agammaglobulinemia from Turkey: Single-centre experience

Esenboga S., Cagdas D. N., Ozgur T. T., Cetinkaya P. G., Turkdemir L. M., Sanal O., ...Daha Fazla

SCANDINAVIAN JOURNAL OF IMMUNOLOGY, cilt.87, sa.3, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 87 Sayı: 3
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1111/sji.12647
  • Dergi Adı: SCANDINAVIAN JOURNAL OF IMMUNOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: B cells, cells, diseases, immunodeficiency, infection, BRUTONS TYROSINE KINASE, GENOTYPE-PHENOTYPE CORRELATION, REPLACEMENT THERAPY, BTK GENE, IDENTIFICATION, EXPRESSION, MUTATIONS, FAMILIES
  • Hacettepe Üniversitesi Adresli: Evet

Özet

X-linked agammaglobulinemia is a primary immunodeficiency disorder resulting from BTK gene mutations. There are many studies in the literature suggesting contradictory ideas about phenotype-genotype correlation. The aim of this study was to identify the mutations and clinical findings of patients with XLA in Turkey, to determine long-term complications related to the disease and to analyse the phenotype-genotype correlation. Thirty-two patients with XLA diagnosed between 1985 and 2016 in Pediatric Immunology Department of Hacettepe University Ihsan Dogramaci Children's Hospital were investigated. A clinical survey including clinical features of the patients was completed, and thirty-two patients from 26 different families were included in the study. Getting early diagnosis and regular assessment with imaging techniques seem to be the most important issues for improving the health status of the patients with XLA. Early molecular analysis gives chance for definitive diagnosis and genetic counselling, but not for predicting the clinical severity and prognosis.