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Table 1 Summary of the CFI mutations identified in the five families

From: Complement factor I deficiency: a not so rare immune defect. Characterization of new mutations and the first large gene deletion

Patients Genetic status cDNA ATG +1 Protein with signal peptide Exon Domain References
III.1, III.2, III.4 He c.266-?_536 + ?del - 2 - Not described
V.1, V.2, V.4 He c.80_81delAT p.D27Afs*18 2 N-terminal Not described
I.1 He c.485 G > A p.G162D 4 SRCR Le Quintrec M. et al. 2008[17]
IV.1, IV.3, IV4, V.1, V.3 He c.559 C > T p.R187X 4 SRCR Not described
II.1 II.2, II.3 Ho He c.772 G > A p.A258T 5 LDLRA2 Vyse et al. 1996[18]
I.1, I.2 He c.1176_1177dupAT p.W393Yfs*5 11 SP Baracho et al. 2003[19]
III.1, III.3, III.4 He c.1420 C > T p.R474X 11 SP Fremaux-Bacchi et al. 2004[20]
IV.1, IV.2, IV.4 He c.1610_1611insAT p.V537Vfs*2 13 SP Not described
  1. Ho, Homozygote; He, Heterozygote; SRCR, Scavenger Receptor Cysteine Rich domain; LDLRA2, Class A low-density lipoprotein receptor domain 2; SP, Serine Protease domain.