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Journal of Clinical Immunology
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Open Access 01-10-2024 | Immunodeficiency | Research

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

Authors: Baran Erman, Umran Aba, Canberk Ipsir, Damla Pehlivan, Caner Aytekin, Gökhan Cildir, Begum Cicek, Ceren Bozkurt, Sidem Tekeoglu, Melisa Kaya, Cigdem Aydogmus, Funda Cipe, Gulsan Sucak, Sevgi Bilgic Eltan, Ahmet Ozen, Safa Barıs, Elif Karakoc-Aydiner, Ayca Kıykım, Betul Karaatmaca, Hulya Kose, Dilara Fatma Kocacık Uygun, Fatih Celmeli, Tugba Arikoglu, Dilek Ozcan, Ozlem Keskin, Elif Arık, Elif Soyak Aytekin, Mahmut Cesur, Ercan Kucukosmanoglu, Mehmet Kılıc, Mutlu Yuksek, Zafer Bıcakcı, Saliha Esenboga, Deniz Çagdaş Ayvaz, Asena Pınar Sefer, Sukrü Nail Guner, Sevgi Keles, Ismail Reisli, Ugur Musabak, Nazlı Deveci Demirbas, Sule Haskologlu, Sara Sebnem Kilic, Ayse Metin, Figen Dogu, Aydan Ikinciogulları, Ilhan Tezcan

Published in: Journal of Clinical Immunology | Issue 7/2024

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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 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.
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Metadata
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
Authors
Baran Erman
Umran Aba
Canberk Ipsir
Damla Pehlivan
Caner Aytekin
Gökhan Cildir
Begum Cicek
Ceren Bozkurt
Sidem Tekeoglu
Melisa Kaya
Cigdem Aydogmus
Funda Cipe
Gulsan Sucak
Sevgi Bilgic Eltan
Ahmet Ozen
Safa Barıs
Elif Karakoc-Aydiner
Ayca Kıykım
Betul Karaatmaca
Hulya Kose
Dilara Fatma Kocacık Uygun
Fatih Celmeli
Tugba Arikoglu
Dilek Ozcan
Ozlem Keskin
Elif Arık
Elif Soyak Aytekin
Mahmut Cesur
Ercan Kucukosmanoglu
Mehmet Kılıc
Mutlu Yuksek
Zafer Bıcakcı
Saliha Esenboga
Deniz Çagdaş Ayvaz
Asena Pınar Sefer
Sukrü Nail Guner
Sevgi Keles
Ismail Reisli
Ugur Musabak
Nazlı Deveci Demirbas
Sule Haskologlu
Sara Sebnem Kilic
Ayse Metin
Figen Dogu
Aydan Ikinciogulları
Ilhan Tezcan
Publication date
01-10-2024
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 7/2024
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-024-01759-w

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Successful Immune Reconstitution in a Patient with a TYK2 Deficiency after Allogeneic Stem Cell Transplantation from Unrelated Donors

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Genetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children’s Hospital Medical Center

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‘Noninferior’ reduction of type 1 diabetes HbA1c by weekly insulin efsitora alfa

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Improve your ECG interpretation skills with this comprehensive, rapid, interactive course. Expert advice provides detailed feedback as you work through 50 ECGs covering the most common cardiac presentations to ensure your practice stays up to date. 

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At a glance: The STEP trials

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