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February 21, 2026Journal of Translational MedicineOpen Access

Novel genetic variants identification and immune profiling in ataxia telangiectasia patients

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Authors

RJRim JenniInstitut Pasteur de TunisHKHedia KlaaTunis UniversityACAsma ChikhaouiInstitut Pasteur de Tunis

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Implication

Novel genetic variants identified and immune responses characterized in ataxia telangiectasia patients, highlighting potential biomarkers.

Key Points

  • The central aim was to identify genetic variants and characterize immune profiles in ataxia telangiectasia patients and their relatives.
  • Conducted target gene sequencing for suspected AT patients
  • Performed flow cytometry to assess immune cell distribution
  • Evaluated expression patterns of candidate genes using RT-qPCR
  • Conducted computational analysis to assess variant pathogenicity
  • Analyzed immune profiles of AT patients compared to relatives and other disorders.
  • Identified novel pathogenic variants in the ATM gene
  • Observed significant alterations in immune cell subsets in AT patients
  • Noted similarities in immune profiles between AT patients and their parents
  • Found variations in immune patterns based on mutation types
  • Identified potential biomarkers (FOXO3, IL33, METTL3) related to disease severity.

Cite This Study

Jenni et al. (2026) studied this question.

synapsesocial.com/papers/69994c4b873532290d020b20https://doi.org/10.1186/s12967-026-07871-2
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