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

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Erman B., Cipe F.

PEDIATRIC ALLERGY IMMUNOLOGY AND PULMONOLOGY, vol.33, no.1, pp.19-24, 2020 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 33 Issue: 1
  • Publication Date: 2020
  • Doi Number: 10.1089/ped.2019.1097
  • Journal Name: PEDIATRIC ALLERGY IMMUNOLOGY AND PULMONOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, Agricultural & Environmental Science Database, BIOSIS, CAB Abstracts, CINAHL, EMBASE, Veterinary Science Database
  • Page Numbers: pp.19-24
  • Keywords: primary immunodeficiency, next-generation sequencing, whole-exome sequencing, MUTATIONS, DEFICIENCY, DIAGNOSIS, DEFECTS, COMPLEX
  • Hacettepe University Affiliated: Yes

Abstract

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.