Identification of nonsense variants in the ATM gene mimicking SCID phenotype: a brief report

Basit Öğe Kaydı
dc.authorid0000-0003-0561-3343
dc.authorid0000-0002-8648-213X
dc.authorid0000-0002-1158-2072
dc.authorid0000-0001-5821-3963
dc.authorid0000-0001-9755-6045
dc.authorid0000-0001-7728-6527
dc.authorid0000-0002-3370-8545
dc.contributor.authorFirtina, Sinem
dc.contributor.authorSaritas, Merve
dc.contributor.authorNg, Yuk Yin
dc.contributor.authorNepesov, Serdar
dc.contributor.authorKiykim, Ayca
dc.contributor.authorBozkurt, Selcen
dc.contributor.authorSayitoglu, Muge
dc.date.accessioned2026-04-04T18:55:24Z
dc.date.available2026-04-04T18:55:24Z
dc.date.issued2025
dc.departmentİstanbul Bilgi Üniversitesi
dc.description.abstractSevere combined immunodeficiency (SCID) represents a life-threatening inborn error of immunity, necessitating rapid diagnosis and intervention to prevent fatal outcomes. While SCID is characterized by profound T-cell lymphopenia, it may overlap with other conditions like ataxia-telangiectasia (AT), which also presents with T-cell deficiencies. This study examines two cases of suspected SCID in infants, later identified as AT due to pathogenic variants in the ATM gene. Despite initial negative results from SCID-targeted gene panels, further genetic testing revealed nonsense mutations (p.Y2036X and p.E1996X) in the FAT domain of the ATM gene, confirmed by Sanger sequencing. The patients exhibited significant T-cell lymphopenia and reduced ATM protein activity, indicative of AT. These findings highlight the importance of comprehensive genetic screening beyond common SCID-associated genes, especially in patients with atypical presentations. Early and accurate diagnosis can prevent mismanagement and guide appropriate therapies, improving patient outcomes.
dc.description.sponsorshipScientific Research Projects Coordination Unit of Istanbul University [37774]
dc.description.sponsorshipThis study was funded by the Scientific Research Projects Coordination Unit of Istanbul University (Project number: 37774).
dc.identifier.doi10.1007/s12026-025-09638-1
dc.identifier.doi10.1007/s12026-025-09638-1
dc.identifier.issn0257-277X
dc.identifier.issn1559-0755
dc.identifier.issue1
dc.identifier.pmid40379838
dc.identifier.scopus2-s2.0-105005397920
dc.identifier.scopusqualityQ3
dc.identifier.urihttps://doi.org/10.1007/s12026-025-09638-1
dc.identifier.urihttps://hdl.handle.net/11411/10405
dc.identifier.volume73
dc.identifier.wosWOS:001489380700001
dc.identifier.wosqualityQ2
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherSpringer
dc.relation.ispartofImmunologic Research
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WoS_20260402
dc.snmzKA_Scopus_20260402
dc.subjectAtaxia-Telangiectasia
dc.subjectSevere Combined Immunodeficiency
dc.subjectGenetic Diagnosis
dc.subjectT-Cell Lymphopenia
dc.subjectAtm Gene
dc.titleIdentification of nonsense variants in the ATM gene mimicking SCID phenotype: a brief report
dc.typeArticle

Dosyalar

Koleksiyon

Web of Science Indexed Publications
PubMed Indexed Publications
Scopus Indexed Publications