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
Özet
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 Türkiye. 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.
Anahtar kelimeler
Atıf için künye
ERMAN, B., Aba, U., Ipsir, C., Pehlivan, D., Aytekin, C., Cildir, G., ÇİÇEK, B., Bozkurt, C., Tekeoglu, S., Kaya, M., Aydogmus, C., Cipe, F., Sucak, G., Eltan, S. B., Ozen, A., Barıs, S., Karakoc-Aydiner, E., Kıykım, A., Karaatmaca, B., … Tezcan, I. (2024). 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, 44(7). https://doi.org/10.1007/s10875-024-01759-w
BibTeX
@article{erman2024-245908,
author = {ERMAN, BARAN and Aba, Umran and Ipsir, Canberk and Pehlivan, Damla and Aytekin, Caner and Cildir, Gökhan and ÇİÇEK, BEGÜM and Bozkurt, Ceren and Tekeoglu, Sidem and Kaya, Melisa and Aydogmus, Cigdem and Cipe, Funda and Sucak, Gulsan and Eltan, Sevgi Bilgic and Ozen, Ahmet and Barıs, Safa and Karakoc-Aydiner, Elif and Kıykım, Ayca and Karaatmaca, Betul and Kose, Hulya and Uygun, Dilara Fatma Kocacık and Celmeli, Fatih and Arikoglu, Tugba and Ozcan, Dilek and Keskin, Ozlem and Arık, Elif and Aytekin, Elif Soyak and Cesur, Mahmut and Kucukosmanoglu, Ercan and Kılıc, Mehmet and Yuksek, Mutlu and Bıçakçı, Zafer and Esenboga, Saliha and Ayvaz, Deniz Çagdaş and Sefer, Asena Pınar and Guner, Sukrü Nail and Keles, Sevgi and Reisli, Ismail and Musabak, Ugur and Demirbas, Nazlı Deveci and Haskologlu, Sule and Kilic, Sara Sebnem and Metin, Ayse and Dogu, Figen and Ikinciogulları, Aydan and Tezcan, Ilhan},
title = {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 = {Journal of Clinical Immunology},
year = {2024},
volume = {44},
number = {7},
issn = {0271-9142},
doi = {10.1007/s10875-024-01759-w},
url = {https://akademik.atauni.edu.tr/yayinlar/245908-genetic-evaluation-of-the-patients-with-clinically-diagnosed-inborn-errors-of}
}