Genetic Risk Variants for Class Switching Recombination Defects in Ataxia-Telangiectasia Patients.

Parisa AmirifarMahya MehrmohamadiMohammad Reza RanjouriSeyed Mohammad AkramiNima RezaeiAli SaberiReza YazdaniHassan AbolhassaniAsghar Aghamohammadi

Published in: Journal of clinical immunology (2021)

Additional impact of certain variants, along with ATM mutations, may explain the heterogeneity in CSR defect phenotype among A-T patients. It can be concluded that genetic modulators play an important role in the course of A-T disease and its clinical severity.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
copy number
peritoneal dialysis
dna damage
prognostic factors
genome wide
small molecule
gene expression
dna methylation
dna repair
single cell
early onset
patient reported outcomes
dna damage response