A novel pathogenic frameshift variant of CD3E gene in two T-B+ NK+ SCID patients from Turkey

Using targeted NGS and Genomize-SEQ variant analysis, Firtina et al. (2017) found an identical novel CD3E frameshift deletion in two unrelated consanguineous Turkish families with T-B+ NK+ SCID. This finding suggests a possible founder effect and expands the known mutational spectrum of CD3E-deficiency.