Article 2024 · 7 citations

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

Erman, Baran, Aba, Umran, Ipsir, Canberk, Pehlivan, Damla, Aytekin, Caner, Cildir, Goekhan, Cicek, Begum, Bozkurt, Ceren, Tekeoglu, Sidem, Kaya, Melisa, Aydogmus, Cigdem, Cipe, Funda, Sucak, Gulsan, Eltan, Sevgi Bilgic, Ozen, Ahmet, Baris, Safa, Karakoc-Aydiner, Elif, Kiykim, Ayca, Karaatmaca, Betul, Kose, Hulya, Uygun, Dilara Fatma Kocacik, Celmeli, Fatih, Arikoglu, Tugba, Ozcan, Dilek, Keskin, Ozlem, Arik, Elif, Aytekin, Elif Soyak, Cesur, Mahmut, Kucukosmanoglu, Ercan, Kilic, Mehmet, Yuksek, Mutlu, Bicakci, Zafer, Esenboga, Saliha, Ayvaz, Deniz cagdas, Sefer, Asena Pinar, Guner, Sukrue Nail, Keles, Sevgi, Reisli, Ismail, Musabak, Ugur, Demirbas, Nazli Deveci, Haskologlu, Sule, Kilic, Sara Sebnem, Metin, Ayse, Dogu, Figen, Ikinciogullari, Aydan, Tezcan, Ilhan

Abstract

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.

Keywords

Inborn errors of immunity next generation sequencing whole exome sequencing genetic diagnosis COMMON VARIABLE IMMUNODEFICIENCY HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS MOLECULAR ANALYSIS GRISCELLI SYNDROME DEFICIENCY CAUSES RAG MUTATIONS SPECTRUM PHENOTYPE FAMILIES DISEASE

WoS Categories

Immunology

Sustainable Development Goals

Good Health and Well-being

Citation

Journal: JOURNAL OF CLINICAL IMMUNOLOGY
Year: 2024
Volume: 44
Issue: 7
ISSN: 0271-9142
eISSN: 1573-2592
DOI: 10.1007/s10875-024-01759-w
WoS UID: WOS:001260687700001

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