Genetic screening of the patients with primary immunodeficiency by whole-exome sequencing

Basit Öğe Kaydı
dc.authoridFunda Erol Çipe / 0000-0002-9718-7507
dc.authoridBaran Erman / 0000-0001-9398-8465
dc.authorscopusidFunda Erol Çipe / 25824763200
dc.authorscopusidBaran Erman / 55214373300
dc.authorwosidBaran Erman / G-1409-2015
dc.authorwosidFunda Erol Çipe / GDE-8701-2022
dc.contributor.authorErman, Baran
dc.contributor.authorErol Çipe, Funda
dc.date.accessioned2020-08-30T20:06:15Z
dc.date.available2020-08-30T20:06:15Z
dc.date.issued2020
dc.departmentİstinye Üniversitesi, Mühendislik ve Doğa Bilimleri Fakültesi, Moleküler Biyoloji ve Genetik Bölümüen_US
dc.descriptionErman, Baran/0000-0001-9398-8465en_US
dc.description.abstractBackground: 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.en_US
dc.description.sponsorshipCan Sucak Candan Biseyler'' Foundation This study was partly supported by the Can Sucak Candan Biseyler'' Foundation.en_US
dc.identifier.citationErman, 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.2019.1097en_US
dc.identifier.doi10.1089/ped.2019.1097en_US
dc.identifier.isbnPEDIAT ALLER IMM PUL
dc.identifier.issn2151-3228en_US
dc.identifier.pmid33406023en_US
dc.identifier.scopus2-s2.0-85082534502en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage24en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12713/442
dc.identifier.urihttps://www.doi.org/10.1089/ped.2019.1097
dc.identifier.volume1en_US
dc.identifier.wosWOS:000517964000001en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorErman, Baranen_US
dc.institutionauthorErol Çipe, Fundaen_US
dc.language.isoenen_US
dc.publisherNew Rochelleen_US
dc.relation.ispartofPediatric Allergy Immunology and Pulmonologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectPrimary Immunodeficiencyen_US
dc.subjectNext-Generation Sequencingen_US
dc.subjectWhole-Exome Sequencingen_US
dc.titleGenetic screening of the patients with primary immunodeficiency by whole-exome sequencingen_US
dc.typeArticleen_US

Dosyalar

Orijinal paket
Listeleniyor 1 - 1 / 1
Küçük Resim
İsim:
H66(reklam)-dönüştürüldü.pdf
Boyut:
553.58 KB
Biçim:
Adobe Portable Document Format
Açıklama:
Tam Metin/ Full Text
İndir

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
Dahili Tıp Bilimleri Bölümü Makale Koleksiyonu
Moleküler Biyoloji ve Genetik Bölümü Makale Koleksiyonu
PubMed İndeksli Yayınlar Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu