Genetic alterations in patients with novel CFHR deficiencies
| Patient . | Deficiency . | ΔCFHR1-CFHR3 . | ΔCFHR1-CFHR4 . | CFHR1 mutation . | CFHR3 mutation . |
|---|---|---|---|---|---|
| H119* | DefR1 | Heterozygosis | No | Heterozygosis | No |
| GN9 | DefR1 | Heterozygosis | Heterozygosis | No | No |
| H177* | DefR1R4A | No | Homozygosis | No | No |
| H123 | DefR3 | Heterozygosis | No | No | Heterozygosis |
| H150 | DefR3 | Heterozygosis | No | No | No |
| GN11 | DefR3 | Heterozygosis | No | No | No |
| Patient . | Deficiency . | ΔCFHR1-CFHR3 . | ΔCFHR1-CFHR4 . | CFHR1 mutation . | CFHR3 mutation . |
|---|---|---|---|---|---|
| H119* | DefR1 | Heterozygosis | No | Heterozygosis | No |
| GN9 | DefR1 | Heterozygosis | Heterozygosis | No | No |
| H177* | DefR1R4A | No | Homozygosis | No | No |
| H123 | DefR3 | Heterozygosis | No | No | Heterozygosis |
| H150 | DefR3 | Heterozygosis | No | No | No |
| GN11 | DefR3 | Heterozygosis | No | No | No |
H119, H177, H123, H150 are patients with aHUS. GN9 and GN11 are patients with MPGN2/DDD.
Patient with aHUS with anti-fH autoantibodies.