Genetic Screening of the Patients with Primary Immunodeficiency by Whole-Exome Sequencing

Creative Commons License

Erman B., Cipe F.

PEDIATRIC ALLERGY IMMUNOLOGY AND PULMONOLOGY, cilt.33, sa.1, ss.19-24, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 33 Sayı: 1
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1089/ped.2019.1097
  • Dergi Adı: PEDIATRIC ALLERGY IMMUNOLOGY AND PULMONOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, Agricultural & Environmental Science Database, BIOSIS, CAB Abstracts, CINAHL, EMBASE, Veterinary Science Database
  • Sayfa Sayıları: ss.19-24
  • Anahtar Kelimeler: primary immunodeficiency, next-generation sequencing, whole-exome sequencing, MUTATIONS, DEFICIENCY, DIAGNOSIS, DEFECTS, COMPLEX
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Background: Primary immunodeficiencies (PIDs) are a heterogeneous group of congenital disorders characterized by susceptibility to recurrent infections, allergy, malignancies and autoimmunity. The identification of disease-causing genetic defects is critically important for treatment options. In last decade, next-generation sequencing (NGS)-based methods has enabled the rapid genetic screening and the discovery of new genetic defects in PIDs. In this study, we investigated causative mutations in patients with PID by NGS.