Table 1.

Complement component assessment in previously undescribed nine patients with CFH and IF gene mutationsa

PatientMutationSCREffectbF/SInheritanceC3 (mg/L)cCFH (%)c
CFH gene
    new mutations
        4d554G→T3A161SFHE50169
        51978A→T11Q635DSHE56376
    known mutations10
        33767del4bp20FrameshiftSHO2344
        103645C→T20S1191LSHE1030110
PatientExonMutationEffectF/SInheritanceC3 (mg/L)IF (%)c
IF gene
    new mutations
        15121246A→CI398LSHE34870
        17121297A→GI415VSHE1000186
        11e4548A→GH165RSHE290ND
    known mutations10
        12IVS12 + 5SDSHE50091
        14IVS12 + 5SDSHE19074
  • a aHUS, atypical hemolytic uremic syndrome; CFH, factor H; F, familial; HE, heterozygous; HO, homozygous; IF, factor I; MCP, membrane cofactor protein; S, sporadic; SD, splice defect.

  • b Numbering of base pairs/amino acids is adapted as previously reported.10

  • c Normal range (−2 SD to 2 SD): C3 660 to 1260 mg/L; CFH 70 to 130%; IF 70 to 130%.

  • d Brother of patient 4 presented with aHUS, with favorable outcome but without mutation of CFH, IF, or MCP.

  • e Patient 11 presented with a mutation in CFH gene (case 8 in Dragon-Durey et al.17) and a mutation in IF gene.