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Article

Novel genetic variants identification and immune profiling in ataxia telangiectasia patients.

Journal of translational medicine - 19 Feb 2026

Jenni Rim, Klaa Hedia, Chikhaoui Asma, Zayoud Khouloud, Cochet Emmanuelle, Kraoua Ichraf, Burglen Lydie, Yacoub-Youssef Houda

Abstract excerpt

BACKGROUND: Ataxia telangiectasia (AT) is an autosomal recessive neurodegenerative disease. While heterozygous relatives of AT patients are known to be clinically healthy, a predisposition to various pathologies has been reported. Our aim was firstly, to further characterize the clinical features and broaden the spectrum of genetic pathogenic variants in AT patients. Secondly, we aimed to study the immune...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41715124
DOI: 10.1186/s12967-026-07871-2
PMCID: PMC13020073

Genes

ATM
FOXO3
IL33
METTL3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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