Pathogenesis of the complement-mediated autoinflammatory disease atypical hemolytic uremic syndrome
Pathogenesis of the complement-mediated autoinflammatory disease atypical hemolytic uremic syndrome. Activating gain-of-function mutations in CFB increase C3bBb convertase stability and lead to permanent activation of the alternative pathway of complement. Autoantibodies against, and inactivating mutations within negative regulators of this process have also been described, such as for complement factor H (CFH) and membrane cofactor protein (MCP), which are cofactors for the inactivation of C3b by complement factor I (CFI). Asterisks denote proteins that carry mutations with known disease associations.
Publication
Horror Autoinflammaticus: The Molecular Pathophysiology of Autoinflammatory Disease. () Seth L. Masters, et al. Annu Rev Immunol. ;27:621-668. Figure: F5.| Organism | Group | Word | Match | Source | NCBI Symbol | NCBI ID |
|---|---|---|---|---|---|---|
| Homo sapiens | Primates | C5 | C5 | ncbigene_symbol | C5 | 727 |
| Homo sapiens | Primates | CFI | CFI | ncbigene_symbol | CFI | 3426 |
| Homo sapiens | Primates | C3b | C3B | ncbigene_synonym | C3 | 718 |
| Homo sapiens | Primates | C3b | C3B | ncbigene_synonym | ERVK-3 | 100862689 |
| Homo sapiens | Primates | CFB | CFB | ncbigene_symbol | CFB | 629 |
| Danio rerio | Vertebrates | C5 | C5 | ncbigene_symbol | c5 | 565774 |
| Danio rerio | Vertebrates | CFI | CFI | ncbigene_symbol | cfi | 557557 |
| Danio rerio | Vertebrates | C3b | C3B | ncbigene_synonym | c3a.2 | 30491 |
| Danio rerio | Vertebrates | CFB | CFB | ncbigene_symbol | cfb | 30604 |
| Word | Match | MeSH | Name | ChEBI |
|---|
Disease mentions
| Word | Match | MeSH | Name | DOID |
|---|