Genetic screening of the patients with primary immunodeficiency by whole-exome sequencing
Yükleniyor...
Tarih
2020
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
New Rochelle
Erişim Hakkı
info:eu-repo/semantics/openAccess
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. Methods: We applied whole-exome sequencing in 8 PID patients. Detected mutations by NGS were validated by Sanger sequencing. Results: We made a genetic diagnosis in 5 of 8 (63%) patients, including 3 novel disease-causing variants. The identified mutations were found in RAG1, RAG2, JAK3, RFXANK, and CYBA genes. Conclusions: Our results show that whole-exome sequencing can facilitate the genetic diagnosis of the patients with PID.
Açıklama
Erman, Baran/0000-0001-9398-8465
Anahtar Kelimeler
Primary Immunodeficiency, Next-Generation Sequencing, Whole-Exome Sequencing
Kaynak
Pediatric Allergy Immunology and Pulmonology
WoS Q Değeri
Q4
Scopus Q Değeri
Q3
Cilt
1
Sayı
Künye
Erman, B., & Cipe, F. (2020). Genetic Screening of the Patients with Primary Immunodeficiency by Whole-Exome Sequencing. PEDIATRIC ALLERGY IMMUNOLOGY AND PULMONOLOGY, 33(1), 19–24. https://doi.org/10.1089/ped.2019.1097
