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)
[ X ]
Tarih
2025
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Springer
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
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
Açıklama
Anahtar Kelimeler
Case report, Clinical article, Erratum, Etiology, Female, Human, Diagnosis, Male, School child
Kaynak
Journal of Clinical Immunology
WoS Q Değeri
Scopus Q Değeri
Q1
Cilt
45
Sayı
1
Künye
Erman, B., Aba, Ü., İpşir, C., Pehlivan, D., Aytekin, C., Çildir, G., Çiçek, B., Bozkurt, C., Tekeoğlu, S., Kaya, M., Aydoğmuş, Ç, Çipe, F., Sucak, G., Eltan, S. B., Özen, A., Barış, S., Karakoç-Aydıner, E., Kıykım, A., Karaatmaca, B., Köse, H., Kocacık Uygun, D. F., Çelmeli, F., Arıkoğlu, T., Özcan, D., Keskin, Ö., Arık, E., Soyak Aytekin, E., Cesur, M., Küçükosmanoğlu, E., Kılıç, M., Yüksek, M., Bıçakçı, Z., Esenboğa, S., Ayvaz, D. Ç., Sefer, A. P., Güner, Ş. N., Keleş, S., Reisli, İ., Musabak, U., Demirbaş, N. D., Haskoloğlu, Ş., Kılıç, S. Ş., Metin, A., Doğu, F., İkincioğulları, A., Tezcan, İ. (2025). 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), Journal of Clinical Immunology, 45(1). 10.1007/s10875-024-01841-3
