Table 3.
Summary of plasma levels of C3, C4, CFH, CFI and CFB and expression of MCP in the various subgroups. Very low C3 level is observed in only patients with homozygous or compound heterozygous CFH mutation and in CFB-mutated patients. In other situations, C3 level is generally mildly decreased or normal N
| Gene | Protein level or expression | |||||
|---|---|---|---|---|---|---|
| C4 | C3 | CFH | CFI | CFB | MCP | |
| Mutation in CFH | N | Low or N | Low or N | N | Low or N | N |
| Mutation in CFI | N | Low or N | N | Low or N | Low or N | N |
| Mutation in MCP | N | Na | N | N | N | Low or N |
| Mutation in CFB | N | Low | N | N | Nb | N |
| Mutation in C3 | N | Low or N | N | N | Low or N | N |
| Anti-CFH-antibodies | N | Low or N | Low or N | N | Low or N | N |
aSome MCP-mutated patients have low C3 levels ([32])
bSome CFB-mutated patients have low CFB levels (unpublished data from a patient of the French pediatric cohort)