ATM Expression and Activation in Ataxia Telangiectasia Patients with and without Class Switch Recombination Defects.

doi:10.1007/s10875-025-01857-3

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Article

ATM Expression and Activation in Ataxia Telangiectasia Patients with and without Class Switch Recombination Defects.

Journal of clinical immunology - 24 Jan 2025

Salami Fereshte, Shad Tannaz Moeini, Fathi Nazanin, Mojtahedi Hanieh, Esmaeili Marzie, Shahkarami Sepideh, Afrakoti Ladan Gol Mohammad Pour, Amirifar Parisa, Delavari Samaneh, Nosrati Hassan, Razavi Azadehsadat, Ranjouri Mohammad Reza, Yousefpour Mahsa, Esfahani Zahra Hamidi, Azizi Gholamreza, Ashrafi Mahmoudreza, Rezaei Nima, Yazdani Reza, Abolhassani Hassan

Abstract excerpt

BACKGROUND: Ataxia telangiectasia mutated (ATM) kinase plays a critical role in DNA double-strand break (DSB) repair. Ataxia telangiectasia (A-T) patients exhibit abnormalities in immunoglobulin isotype expression and class switch recombination (CSR). This study investigates the role of residual ATM kinase expression and activity in the severity of A-T disease. METHODS: A-T patients with defined genetic diagnoses...

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PMID: 39853455
DOI: 10.1007/s10875-025-01857-3
PMCID: PMC11762072

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