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
Baran Erman, Begum Cicek, Umran Aba, Canberk Ipsir, Damla Pehlivan, Ceren Bozkurt, Sidem Tekeoglu, Melisa Kaya, Caner Aytekin, Goekhan Cildir, Cigdem Aydogmus, Funda Erol Cipe, Gulsan Sucak, Sevgi Bilgic Eltan, Ahmet Ozen, Safa Baris, Elif Karakoc Aydiner, Ayca Kiykim, Betul Karaatmaca, Ayse Metin, Hulya Kose, Dilara Fatma Kocacik Uygun, Fatih Celmeli, Tugba Arikoglu, Dilek Ozcan, Ozlem Keskin, Elif Arik, Mahmut Cesur, Ercan Kucukosmanoglu, Elif Soyak Aytekin, Mehmet Kilic, M. Yuksek, Zafer Bicakci, Saliha Esenboga, Deniz cagdas Ayvaz, Ilhan Tezcan, Asena Pinar Sefer, Sukrue Nail Guner, Sevgi Keles, I. Reisli, Ugur Musabak, Nazli Deveci Demirbas, S. Haskologlu, F. Dogu, A. Ikinciogullari, Sara Sebnem Kilic
article (Uluslararası, Hakemli) | Yazar(lar): Baran Erman, Begum Cicek, Umran Aba, Canberk Ipsir, Damla Pehlivan, Ceren Bozkurt, Sidem Tekeoglu, Melisa Kaya, Caner Aytekin, Goekhan Cildir, Cigdem Aydogmus, Funda Erol Cipe, Gulsan Sucak, Sevgi Bilgic Eltan, Ahmet Ozen, Safa Baris, Elif Karakoc Aydiner, Ayca Kiykim, Betu
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 addition to its role in diagnosing known gene defects, the application of high-throughput techniques such as targeted, exome, and genome sequencing has led to the identification of novel disease-causing genes. However, the results obtained from these different methods can vary depending on disease phenotypes or patient characteristics. In this study, we conducted whole-exome sequencing (WES) in a sizable cohort of IEI patients, consisting of 303 individuals from 21 different clinical immunology centers in T & uuml;rkiye. Our analysis resulted in likely genetic diagnoses for 41.1% of the patients (122 out of 297), revealing 52 novel variants and uncovering potential new IEI genes in six patients. The significance of understanding outcomes across various IEI cohorts cannot be overstated, and we believe that our findings will make a valuable contribution to the existing literature and foster collaborative research between clinicians and basic science researchers.