PMC8859262_01
Next-generation sequencing results of zhou xx and his parents. (A) Zhou xx - Father ITGB3 exon9:c.1199G>A showed G/A heterozygosity. (B) Zhou xx - mather ITGB3 exon9:c.1199G>A showed G/A heterozygosity. (C) Zhou xx - ITGB3 exon9:c.1199G>A showed G/A homozygosity.
fped-09-776927-g0001.jpg
PMC8859262_01_fped-09-776927-g0001.jpg
F1
Genetic examination revealed that the child had a homozygous mutation at ITGB3 (ITGB3:exon9:c.1199G>A), and heterozygous mutations were also found in his parents, as shown in Figure 1.
The expression of CD61 and CD41a after transplantation detected by flow cytometry.
fped-09-776927-g0002.jpg
PMC8859262_01_fped-09-776927-g0002.jpg
F2
CD61 (GP IIIa) was 84.6%, and CD41a (GP IIb/IIIa) rate was 85.3% on the 25th day after PBSCT (Figure 2). CD61 and CD41a expression rates were significantly higher than those observed before transplantation (Supplementary Table 1).