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    Correction to : 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
    (2024) Erman, Baran; Aba, Ümran; İpşir, Canberk; Pehlivan, Damla; Aytekin, Caner; Çildir, Gökhan; Çiçek, Begüm; Bozkurt, Ceren; Tekeoğlu, Sidem; Kaya, Melisa; Aydoğmuş, Çiğdem; Çipe, Funda; Sucak, Gülsan; Eltan, Sevgi Bilgiç; Özen, Ahmet; Barış, Safa; Karakoç-Aydıner, Elif; Kıykım, Ayça; Karaatmaca, Betül; Köse, Hülya; Kocacık Uygun, Dilara Fatma; Çelmeli, Fatih; Arıkoğlu, Tuğba; Özcan, Dilek; Keskin, Özlem; Arık, Elif; Soyak Aytekin, Elif; Cesur, Mahmut; Küçükosmanoğlu, Ercan; Kılıç, Mehmet; Yüksek, Mutlu; Bıçakçı, Zafer; Esenboğa, Saliha; Ayvaz, Deniz Çağdaş; Sefer, Asena Pınar; Güner, Şükrü Nail; Keleş, Sevgi; Reisli, İsmail; Muşabak, Uğur; Deveci Demirbaş, Nazlı; Haskoloğlu, Şule; Kılıç, Sara Şebnem; Metin, Ayşe; Doğu, Figen; İkincioğulları, Aydan; Tezcan, İlhan
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    Correction to: 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, (2024), 44, 7, (157), 10.1007/s10875-024-01759-w)
    (Springer, 2025) Erman, Baran; Aba, Ümran; İpşir, Canberk; Pehlivan, Damla; Aytekin, Caner; Çildir, Gökhan; Çiçek, Begüm; Bozkurt, Ceren; Tekeoğlu, Sidem; Kaya, Melisa; Aydoğmuş, Çiğdem; Çipe, Funda; Sucak, Gülsan; Eltan, Sevgi Bilgiç; Özen, Ahmet; Barış, Safa; Karakoç-Aydıner, Elif; Kıykım, Ayça; Karaatmaca, Betül; Köse, Hülya; Kocacık Uygun, Dilara Fatma; Çelmeli, Fatih; Arıkoğlu, Tuğba; Özcan, Dilek; Keskin, Özlem; Arık, Elif; Soyak Aytekin, Elif; Cesur, Mahmut; Küçükosmanoğlu, Ercan; Kılıç, Mehmet; Yüksek, Mutlu; Bıçakçı, Zafer; Esenboğa, Saliha; Ayvaz, Deniz Çağdaş; Sefer, Asena Pınar; Güner, Şükrü Nail; Keleş, Sevgi; Reisli, İsmail; Muşabak, Uğur; Deveci Demirbaş, Nazlı; Haskoloğlu, Şule; Kılıç, Sara Şebnem; Metin, Ayşe; Doğu, Figen; İkincioğulları, Aydan; Tezcan, İlhan
    Since the publication of this article we have noticed several errors within the main Table 1 of the manuscript. Four variants were given with different transcript IDs of the same gene. There are also 2 nomenclature errors in the variants of P58 and P117. The necessary corrections have been made in the table below. The errors do not affect the causality of the variants, the results or conclusions reported in the manuscript. The authors apologize for the error, and regret any inconvenience this may have caused. The original version has been corrected. (Table presented.) Patient no Clinical diagnosis (IUIS) Age Gender Consan Gene Variant Transcript ID Zygosity Consequence Novelty P18 CID 20 F + c.214G>A p.Gly72Ser NM_001199917.1 The true RefseqID should be NM_001199919.1 Hom Missense Novel P29 SCID 6 m F + c.551_555del p.Glu184Glyfs*2 c.241G>A p.Gly81Arg NM_000022.4 NM_000022.4 The true RefseqID should be NM_001322050 for these variants Comp. Het Out of frame/Deletion Missense Novel rs2065384316 P34 SCID 1 M + c.779A>G p.Glu260Gly NM_001322050 The true RefseqID should be NM_000022.4 for this variant Hom Missense rs1354071013 P58 SCID 2 M + c.1633delT p.Glu545AsnfsTer The correct nomenclature of this variant is c.1633del p.Glu545Asnfs*58 NM_001350965.2 Hom Out of frame/Deletion Novel P113 PAD/CVID 7 F + c.919C>T p.Arg307Trp NM_001372051.1 The true RefseqID should be NM_001080125.1 Hom Missense rs17860424 P117 SCID 1 F + c.2322G>A p.Arg737His The correct nomenclature of this variant is c.2210G>A p.Arg737His The nucleotide position 2322 refers an old transcript NM_000448.3 Hom Missense rs104894286
  • Küçük Resim
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    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
    (2024) Erman, Baran; Aba, Ümran; İpşir, Canberk; Pehlivan, Damla; Aytekin, Caner; Çildir, Gökhan; Çiçek, Begüm; Bozkurt, Ceren; Tekeoğlu, Sidem; Kaya, Melisa; Aydoğmuş, Çiğdem; Çipe, Funda; Sucak, Gülsan; Eltan, Sevgi Bilgiç; Özen, Ahmet; Barış, Safa; Karakoç-Aydıner, Elif; Kıykım, Ayça; Karaatmaca, Betül; Köse, Hülya; Kocacık Uygun, Dilara Fatma; Çelmeli, Fatih; Arıkoğlu, Tuğba; Özcan, Dilek; Keskin, Özlem; Arık, Elif; Soyak Aytekin, Elif; Cesur, Mahmut; Küçükosmanoğlu, Ercan; Kılıç, Mehmet; Yüksek, Mutlu; Bıçakçı, Zafer; Esenboğa, Saliha; Ayvaz, Deniz Çağdaş; Sefer, Asena Pınar; Güner, Şükrü Nail; Keleş, Sevgi; Reisli, İsmail; Muşabak, Uğur; Deveci Demirbaş, Nazlı; Haskoloğlu, Şule; Kılıç, Sara Şebnem; Metin, Ayşe; Doğu, Figen; İkincioğulları, Aydan; Tezcan, İlhan
    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.