Fig 1: Patients are homozygous for a synonymous IL7R variant. A. Pedigree of the kindred. B. Sanger sequence confirmation of the c.735C > T mutation highlighted in light blue. Red arrows indicate a c.731C > T SNP in healthy donors. C. Diagram of IL-7Rα pre-mRNA and protein indicating the site of the c.735C > T mutation and listing the previously published SCID mutations associated with each exon/intron [11, 14, 15, 30, 33–53]
Fig 2: IL-7Rα expression is reduced by 50% in parents’ T cells. PBMCs from parents & 2 HDs were stained for IL-7Rα (CD127), CD3, CD4 and CD8. A. Histograms showing CD127 expression in CD3+ T cells. B. Quantification of IL-7Rα MFI in CD4 and CD8 from 3 independent experiments. IL-7R expression was normalized to the average of the HDs in each experiment. Unpaired T test was used for statistical analysis ** p < 0.01, **** p < 0.0001. C. Expression of CD127 pre- and post-HSCT on CD3+CD4+ or CD3+CD8+ PBMCs of P2 compared to the indicated individuals. D. Expression of HLA-A,B,C and HLA-DR in CD3+ CD4+ or CD3+CD8+ PBMCs from indicated individuals. E. Sanger sequencing of P1 and P2 gDNA extracted from in vitro expanded T cell blasts. Chromatogram shows the presence of the c.735C allele from the mother
Supplier Page from Thermo Fisher Scientific for Human IL-7 R alpha/CD127 ELISA Kit