Article
Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.
Journal of clinical immunology - 2 Jul 2024
Erman Baran, Aba Umran, Ipsir Canberk, Pehlivan Damla, Aytekin Caner, Cildir Gökhan, Cicek Begum, Bozkurt Ceren, Tekeoglu Sidem, Kaya Melisa, Aydogmus Cigdem, Cipe Funda, Sucak Gulsan, Eltan Sevgi Bilgic, Ozen Ahmet, Barıs Safa, Karakoc-Aydiner Elif, Kıykım Ayca, Karaatmaca Betul, Kose Hulya, Uygun Dilara Fatma Kocacık, Celmeli Fatih, Arikoglu Tugba, Ozcan Dilek, Keskin Ozlem, Arık Elif, Aytekin Elif Soyak, Cesur Mahmut, Kucukosmanoglu Ercan, Kılıc Mehmet, Yuksek Mutlu, Bıcakcı Zafer, Esenboga Saliha, Ayvaz Deniz Çagdaş, Sefer Asena Pınar, Guner Sukrü Nail, Keles Sevgi, Reisli Ismail, Musabak Ugur, Demirbas Nazlı Deveci, Haskologlu Sule, Kilic Sara Sebnem, Metin Ayse, Dogu Figen, Ikinciogulları Aydan, Tezcan Ilhan
Abstract excerpt
Molecular diagnosis of inborn errors of immunity (IEI) plays a critical role in determining patients' long-term prognosis, treatment options, and genetic counseling. Over the past decade, the broader utilization of next-generation sequencing (NGS) techniques in both research and clinical settings has facilitated the evaluation of a significant proportion of patients for gene variants associated with IEI. In...
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