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

Immunologic research - 16 May 2025

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

Abstract excerpt

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...

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PMID: 40379838
DOI: 10.1007/s12026-025-09638-1

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ATM

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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