Atıf İçin Kopyala
Erman B., Cipe F.
PEDIATRIC ALLERGY IMMUNOLOGY AND PULMONOLOGY, cilt.33, sa.1, ss.19-24, 2020 (SCI-Expanded)
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Yayın Türü:
Makale / Tam Makale
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Cilt numarası:
33
Sayı:
1
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Basım Tarihi:
2020
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Doi Numarası:
10.1089/ped.2019.1097
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Dergi Adı:
PEDIATRIC ALLERGY IMMUNOLOGY AND PULMONOLOGY
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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
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Sayfa Sayıları:
ss.19-24
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Anahtar Kelimeler:
primary immunodeficiency, next-generation sequencing, whole-exome sequencing, MUTATIONS, DEFICIENCY, DIAGNOSIS, DEFECTS, COMPLEX
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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.