PMC9205732_01
(a) Patient's BLNK gene sequence analysis images, homozygous c.790 C > T (p.Gln264Ter) mutation in exon 11. (b) His parents' heterozygous c.790 C > T (p.Gln264Ter) mutation in exon 11.
CRII2022-7313009.001.jpg
PMC9205732_01_CRII2022-7313009.001.jpg
fig1
TNGS workflow based on an Ion AmpliSeq  Primary Immune Deficiency Research Panel designed for sequencing 264 PID genes on Ion S5  Sequencer demonstrated a homozygous c.790 C >T (p.Gln264Ter) mutation in BLNK gene (Figure 1).