Figure 2.
Minor skewing in SHM patterns are found in a subgroup of CVID patients. (A) A schematic overview of the different pathways by which AID induced U lesions can be repaired and the mutation patterns they are linked to. The percentages of mutations located in RGYW/WRCY (B) and TW/WA (C) motives in IGHA and IGHG rearrangements of HC's and CVID patients. (D) Percentage of mutations located at G/C locations. The percentage of mutations located at G/C (E) or A/T (F) locations that are transitions. The dotted lines represent the mean ±2 standard deviations (st dev) of the HC. (G) Heatmap showing the different aspects of SHM patterns per patient. Values < 2 st dev below the mean are depicted in increasingly darker shades of red, while values >2 st dev above the mean are depicted in increasingly darker shades of green. Patients (except CVID6) are clustered based on all data included in the heatmap. Dotted lines in graphs B-F represent the mean plus and minus 2 st dev of the HC. Statistical significance is performed using a Mann Whitney-test and indicated using *P < 0.05 and **P < 0.001.