case_images: PMC11303290_01
case_images: Patients' clinical records. Graphical display of the clinical course and the treatment administered in the patients.
case_images: fped-12-1424380-g001.jpg
case_images: PMC11303290_01_fped-12-1424380-g001.jpg
case_images: F1
case_images: Shiga-toxin-producing Escherichia coli was not investigated at that moment to determine if it was a typical or atypical HUS (Figure 1).
case_images: PMC11303290_02
case_images: (A) Family pedigree and C3 levels of investigated individuals. Filled-in squares/circles represent affected individuals. NG, not genotyped. (B) Electropherograms of C3 mutations in P1. (C) Graphical display of C3 protein domains and location of the mutations. (D) Level of switched and non-switched memory B cells over time.
case_images: fped-12-1424380-g002.jpg
case_images: PMC11303290_02_fped-12-1424380-g002.jpg
case_images: F2
case_images: Sanger sequencing of the family demonstrated the compound heterozygous inheritance and the presence of both variants in P2 (Figure 2A). Both variants occur in the beta chain of C3 protein and are predicted to undergo nonsense-mediated decay (Figure 2C). Flow cytometry analysis of B-cell subpopulations on several occasions showed persistent decreased total memory B cells due to reduced switched (IgD- IgM-) and non-switched memory B cells (CD27+ IgM+ IgD+) in one of the siblings and decreased non-switched memory B cells in her sister (Figure 2D).