Table 1.

Summary of patients with combined mutations

CohortPatientCFH MutationMCP MutationCFI MutationC3 MutationCFB Mutationrs3753394rs1065489rs7144Familial/SporadicSexAge at Onset (yr)C3 LevelsaCFH LevelsaCFI LevelsaTriggersEpisodesOutcome at First EpisodeOutcome at 3 yr
I#130F169G1194DF242CCTGTCCFamilialM0.75NormalNormalNormalE. coli infection2RemissionRemission
I#130F582G1194DF242CCTGTTCFamilialF31NormalNormalNormalPregnancy1ESRFESRF+tx
FFRA15R1210CY29×TTTTCCFamilialF29NormalNormalNormalPregnancy1ESRFESRF
I#024F106R1210CC35Y, R59XCTGTTTFamilialM3.5LowNormalNormalGastroenteritis2RemissionRemission
I#024F108R1210CC35Y, R59XCTGTTTFamilialM8LowNormalNormalBroncopneumonia2RemissionRemission
SHUS143T30Nfs10XI208YCTGTCCFamilialF27LowLowNormalPregnancy1RemissionRemission
SHUS186R1215QR103QCTGTTTSporadicM24NormalNormalNormaln.a.3ESRFESRF
FFRE06N767Kfs7XH183RCCGTCCSporadicM1.3LowLowNormaln.a.1ESRFESRF
SHUS207P968Lfs7XI340TCTTTTTSporadicF30NormalNormalNormalNo trigger (pill)1ESRFESRF
I#265F870S1191LE554VCCGGTTFamilialM0.83NormalNormaln.a.URT infection8RemissionRemission
I#176F1314Hybrid CFH/CFHR1c.1429+1G>CTTGTTCFamilialF0.5Normaln.a.n.a.URT infection1Remissionn.a.
IR062V1197AG1116RCCGTCCSporadicM<10LowNormaln.a.n.a.5RemissionESRF
FFRA50R341HR161WTTTTCCSporadicF23LowNormalNormalPregnancy1ESRFESRF
FFRE60R103WP50An.a.n.a.n.a.FamilialF2NormalNormalNormaln.a.3RemissionRemission
SGUIHUS62R103WN151SCTGTCCFamilialM34NormalNormalLown.a.1ESRFESRF
SGUIHUS109R103W, c.800–820delN151SCTGTTCFamilialF1NormalNormalHalfNo trigger3RemissionRemission
FFRA106c.286+2T>GH118RTTTTCCSporadicM32NormalNormalNormaln.a.1ESRFESRF
SHUS167C210FC247GCTGTTCSporadicM22NormalNormalHalfn.a.1RemissionRemission
IS657c.287–2A>GL484Vfs3XCTGTTCSporadicM0.75NormalNormalNormalNo trigger2RemissionESRF
SRCOHUS68P165ST538XCTGTTCFamilialF57NormalNormalLown.a.2RemissionESRF
SRCOHUS84P165ST538XCTGTTCFamilialF41NormalNormalHalfNo trigger1RemissionRemission
UKNCLA353VP553SCTGGCCSporadicF63NormalNormaln.a.n.a1n.a.n.a.
FFRE44A353VH1464DCCGGCCFamilialM2.5NormalNormalNormalInfection6RemissionRemission
FFRE18D524VP1114LCCGGTCSporadicM1.5LowNormalNormaln.an.a.RemissionRemission
FFRA104Y459SV455ICTGTTCSporadicM40NormalNormalLowNo trigger1ESRFESRF
FFRA13R1210CY29XP553STTTTCCFamilialF47NormalNormalNormaln.a1RemissionESRF
IS978R1210Cc.286+2T>GI357MCTGTTCSporadicM30n.a.n.a.n.a.No trigger1ESRFESRF
  • n.a., not available; URT, upper respiratory trait.

  • a Normal ranges: International Registry (I): C3, 830–1,330 mg/L; C4, 150–450 mg/L; CFH, 350–750 mg/L; CFI, 70%–130%. Spain (S): C3, 800–1,770 mg/L; C4, 140–470 mg/L; CFH, 100–350 mg/L; CFI, 70%–130%. France (F): C3, 660–1,250 mg/L; C4, 93–380 mg/L; CFH, 338–682 mg/L; CFI, 42–78 mg/L. United Kingdom (UK): C3, 680–1,380 mg/L; C4, 180–600 mg/L; CFH, 350–590 mg/L; CFI, 38–58 mg/L. C4 levels were normal in all patients except S978, which is not available. Ethnic origin is Caucasian for all patients but FRE60 (North African origin).