Causative mechanisms and clinical impact of immunoglobulin deficiencies in ataxia telangiectasia

To study the details of class switch recombination in patients with AT, we examined the switch junctions in patients’ B-cells as well as matched controls by using linear amplification-mediated high-throughput genome-wide sequencing (LAM-HTGTS) methods. Switch recombination fragments in IgH region from B cells were linear ampified, enriched, and sequenced by Miseq. Switch junctions were then analyzed to explore the role of DNA repair during the CSR in AT patients.