Table 2.
Characteristics of genetic and acquired complement aberrations identified in the enrolled STEC-HUS, SP-HUS, and aHUS patients
| Disease | Complement aberration | SIFT | PolyPhen | EVS | IHD | ExAC | Literature | |
|---|---|---|---|---|---|---|---|---|
| P9 | STEC-HUS | αFH | – | – | N.A. | N.A. | – | HUS: Jozsi et al.[12] |
| P10 | STEC-HUS | αFH | – | – | N.A. | N.A. | – | HUS: Jozsi et al.[12] |
| P14 | STEC-HUS | C3: p.Arg1219His | Tolerated | Benign | 1/6503 (0.02 %) | 0/5036 (0.00 %) | 1/66732 (0.01 %) | – |
| P21 | STEC-HUS | CFH: p.Thr956Met | Tolerated | Probably damaging | 15/6503 (0.23 %) | 1/5036 (0.02 %) | 87/66734 (0.13 %) | HUS: Perkins, Goodship.[45] |
| P25 | STEC-HUS | C3: p.Lys155Gln | Tolerated | Benign | 38/6503 (0.58 %) | 34/5036 (0.68 %) | 395/66700 (0.59 %) | AMD: Seddon et al.[44] |
| P29 | STEC-HUS | CFH: p.Ser58Ala | Tolerated | Benign | 2/6503 (0.03 %) | 0/5036 (0.00 %) | 11/66526 (0.02 %) | – |
| P32 | STEC-HUS | αFH | – | – | N.A. | N.A. | – | HUS: Jozsi et al.[12] |
| P3 | aHUS | αFH | – | – | N.A. | N.A. | – | HUS: Jozsi et al.[12] |
| P8 | aHUS | C3: p.Arg161Trp; αFH | Deleterious | Probably damaging | 0/6503 (0.00 %) | 6/5036 (0.12 %) | Not present | HUS: Volokhina et al.[9] |
| P18 | aHUS | αFH | – | – | N.A. | N.A. | – | HUS: Jozsi et al.[12] |
| P20 | aHUS | CD46: p.Asp271_Ser272del | – | – | 0/6503 (0.00 %) | 1/5036 (0.02 %) | Not present | HUS: Richards et al.[10] |
| P31 | aHUS | αFH | – | – | N.A. | N.A. | – | HUS: Jozsi et al.[12] |
| P33 | aHUS | CD46: p.Cys35Tyr | Deleterious | Probably damaging | 0/6503 (0.0 %) | 2/5036 (0.04 %) | 0/66592 (0.00 %) | HUS: Caprioli et al.[5] |
| P35 | aHUS | C3: p.Arg161Trp | Deleterious | Probably damaging | 0/6503 (0.00 %) | 6/5036 (0.12 %) | Not present | HUS: Volokhina et al.[9] |
αFH autoantibodies against factor H, aHUS atypical hemolytic uremic syndrome, SP-HUS Streptococcus pneumoniae HUS, AMD age-related macula degeneration, C3 complement component 3, CD46 membrane cofactor protein, CFH complement factor H, EVS Exome variant server (http://evs.gs.washington.edu/EVS/), ExAC Exome Aggregation Consortium (http://exac.broadinstitute.org/), HUS hemolytic uremic syndrome, IHD in-house database, N.A. not applicable, N/D not determined, SIFT Sorting Intolerant From Tolerant (http://sift.jcvi.org/), PolyPhen Polymorphism Phenotyping v2 (http://genetics.bwh.harvard.edu/pph2/), STEC-HUS Shiga-toxin-procuding Escherichia coli-induced HUS