Evidence map›Paper›PMID 40379838›Full record

ArticleImmunologic research2025

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

Sinem Firtina, Merve Saritas, Yuk Yin Ng, Serdar Nepesov, Ayca Kiykim, Selcen Bozkurt, Sevgi Bilgic-Eltan, Ozden Hatirnaz Ng, Muge Sayitoglu

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In one paragraph

Article in Immunologic research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Sinem FirtinaDepartment of Medical Genetics, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Turkey.ORCID http://orcid.org/0000-0002-3370-8545
Merve SaritasDepartment of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Vakıf Gureba Cad. No:69, Fatih, Istanbul, 34093, Turkey.ORCID http://orcid.org/0000-0003-4753-9372
Yuk Yin NgDepartment of Genetics and Bioengineering, Istanbul Bilgi University, Istanbul, Turkey.ORCID http://orcid.org/0000-0001-9755-6045
Serdar NepesovDepartment of Pediatrics Allergy and Immunology, Medicine Faculty, Istanbul, Turkey.ORCID http://orcid.org/0000-0002-4551-5433
Ayca KiykimDepartment of Pediatrics Allergy and Immunology, Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey.ORCID http://orcid.org/0000-0001-5821-3963
Selcen BozkurtDivision of Pediatric Allergy and Immunology, Marmara University School of Medicine, Istanbul, Turkey.ORCID http://orcid.org/0000-0002-1158-2072
Sevgi Bilgic-EltanDivision of Pediatric Allergy and Immunology, Marmara University School of Medicine, Istanbul, Turkey.ORCID http://orcid.org/0000-0003-0561-3343
Ozden Hatirnaz NgDepartment of Medical Biology, School of Medicine, Acıbadem Mehmet Ali Aydınlar University, Istanbul, Turkey.ORCID http://orcid.org/0000-0001-7728-6527
Muge SayitogluDepartment of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Vakıf Gureba Cad. No:69, Fatih, Istanbul, 34093, Turkey. mugeay@istanbul.edu.tr.ORCID http://orcid.org/0000-0002-8648-213X

Funding

Scientific Research Projects Coordination Unit of Istanbul University 37774
6 · The paper itself

Abstract

Severe 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.

Indexed as

Ataxia TelangiectasiaAtaxia Telangiectasia Mutated ProteinsCodon, NonsenseSevere Combined ImmunodeficiencyFemaleGenetic TestingHumansInfantMalePhenotypeT-LymphocytesAtaxia Telangiectasia Mutated ProteinsATM protein, humanCodon, NonsenseAtaxia-telangiectasiaATM geneGenetic diagnosisSevere combined immunodeficiencyT-cell lymphopenia

Identifiers

PMID40379838

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.