Summary of patients with R69W MCP mutations
| Patient . | Disease . | Sex . | Age of onset, y . | Relapses, no. . | Renal sequelae, no. . | Inheritance . | Complement protein tested† . | Other mutations . | Source . |
|---|---|---|---|---|---|---|---|---|---|
| 1 | aHUS | M | NA | NA | NA | Het | NA | Het N151S CFI, hom MCPggaac risk haplotype | Esparza-Gordillo et al,9 Rodríguez de Córdoba, written communication, December 2006 |
| 2 | aHUS | F | NA | NA | NA | Het | NA | Het c.905–925del21n MCP, het N151S CFI, het MCPggaac risk haplotype | Rodríguez de Córdoba, written communication, December 2006 |
| 3 | aHUS | M | Childhood | 0 | None | Hom | C3, FB, FH, FI, MCP | None | V.F.B., December 2006 |
| 4 | aHUS | F | 2 | 2 | None | Het | C3, FB, FH, FI, MCP | Het P32A CFI | V.F.B., December 2006 |
| Patient . | Disease . | Sex . | Age of onset, y . | Relapses, no. . | Renal sequelae, no. . | Inheritance . | Complement protein tested† . | Other mutations . | Source . |
|---|---|---|---|---|---|---|---|---|---|
| 1 | aHUS | M | NA | NA | NA | Het | NA | Het N151S CFI, hom MCPggaac risk haplotype | Esparza-Gordillo et al,9 Rodríguez de Córdoba, written communication, December 2006 |
| 2 | aHUS | F | NA | NA | NA | Het | NA | Het c.905–925del21n MCP, het N151S CFI, het MCPggaac risk haplotype | Rodríguez de Córdoba, written communication, December 2006 |
| 3 | aHUS | M | Childhood | 0 | None | Hom | C3, FB, FH, FI, MCP | None | V.F.B., December 2006 |
| 4 | aHUS | F | 2 | 2 | None | Het | C3, FB, FH, FI, MCP | Het P32A CFI | V.F.B., December 2006 |
NA indicates not available; Het, heterozygous; and Hom, homozygous.
*Patients 1 and 2 and patients 3 and 4 are father and daughter, respectively.
Components listed were measured and were normal; MCP was measured by FACS.