ID sex | Born | Age at onset/diagnosis | Cord blood samples [reference values for adults] | Peripheral complement measurements [reference values for adults] | Genetic testingb | ||
---|---|---|---|---|---|---|---|
HAE1 f | 1995 | 5/6 y | n.d. | 6 y fC1INH 34 [70–130]% | 8.8 y C1INH 0.15 [0.21–0.39]g/L fC1INH 55 [70–130]% C4 0.13 [0.1–0.4]g/L | 11.6 y C1INH 129 [210–345]mg/L fC1INH 9.2 [17.2–27.4]U/ml C4 120 [157–257]U/mg | 11.6 y c.437delT, p.Leu124TrpfsTer2 |
HAE2 f | 1995 | 5/6.3 y | Complement values reported as normal (missing) | 6.3 y fC1INH 33 [70–130]% | 9.5 y C1INH 0.05 [0.21–0.39]g/L fC1INH < 20 [70–130]% C4 0.08 [0.1–0.4]g/L | n.d. | |
HAE3 m | 1996 | 4/4 y | n.d. | 2 y fC1INH 34 [70–130]% | 6.8 y C1INH 0.05 [0.21–0.39]g/L fC1INH 122 [70–130]% C4 0.07 [0.1–0.4]g/L | 8.5 y C1INH 0.06 [0.21–0.39]g/L fC1INH 23 [70–130]% | n.d. |
HAE4 f | 1996 | 1/2 y | n.d. | 2 y fC1INH 22 [70–130]% | 9.7 y C1INH 0.06 [0.21–0.39]g/L fC1INH 39 [70–130]% C4 0.07 [0.1–0.4]g/L | 9.8 y c.23dupT, X19 in signal peptide | |
HAE5a f | 1999 | 11/13.2 y | n.d. | 13.2 y C1INH <25 [72–153]% fC1INH 27 [70–130]% C4 0.05 [0.16–0.38]g/L | 13.5 y C1INH 0.08 [0.21–0.39]g/L fC1INH 46 [70–130]% C4 < 0.06 [0.1–0.4]g/L | 13.7 and 15.1 y No SERPING1 mutation found | |
HAE6 m | 2000 | 3/3 y | n.d. | 2.3 y C1INH 0.09 [0.21–0.39]g/L fC1INH 47 [70–130]% C4 0.2 [0.49–1.66]g/L | n.d. | ||
HAE7a m | 2000 | 4/8.8 y | n.d. | 8.8 y C1INH 0.07 [0.21–0.39]g/L fC1INH 32 [70–130]% C4 0.07 [0.1–0.4] g/L | 9.8 y c.1030_1503del, deletion of exons 7 and 8 | ||
HAE8a f | 2000 | 4/6.8 y | n.d. | 6.8 y fC1INH 20 [70–130]% C4 < 0.04 [0.1–0.4]g/L | 6.9 y C1INH 0.14 [0.21–0.39]g/L fC1INH 21 [70–130]% C4 < 0.04 [0.1–0.4]g/L | 7.5 y c.1381G > C, p.Ala439Pro | |
HAE9 f | 2001 | 10/1.6 y | C1INH 0.07 g/L [0.21–0.39] fC1INH 32% [70–130] C4 0.15 g/L [0.1–0.4] | 1.6 y C1INH 0.12 [0.21–0.39]g/L C4 0.08 [0.1–0.4]g/L | 2.8 y fC1INH 49 [70–130]% | 7.3 y C1INH 0.13 [0.21–0.39]g/L fC1INH 50 [70–130]% C4 0.08 [0.1–0.4]g/L | n.d. |
HAE10 f | 2004 | 4.2/4.7 y | n.d. | 4.7 y C1INH 0.06 [0.21–0.39]g/L fC1INH 32 [70–130]% | 4.8 y C1INH 61 [210–345]mg/L fC1INH <2 [17.2–27.4]U/ml C4 68 [157–257]mg/L | 4.8 y c.551_685del, deletion of exon 4 | |
HAE11 m type II | 2004 | -/5.7 y | n.d. | 5 y C1INH 0.44 [0.21–0.39]g/L fC1INH 56 [70–130]% C4 0.07 [0.1–0.4]g/L | 5.7 y C1INH 0.34 [0.21–0.39]g/L fC1INH 37 [70–130]% | 6.3 y c.1397G > A, p.Arg444His | |
HAE12 m | 2006 | 4/4.4 y | C1INH 0.05 [0.21–0.39]g/L C4 0.08 [0.1–0.4]g/L | 4.4 y fC1INH 37 [70–130]% C4 0.1 [0.1–0.4]g/L | 4.5 y c.1417G > A, p.Val451Met | ||
HAE13 m | 2006 | 5.4/3.8 y | fC1INH 32 [70–130]% | 1.3 y fC1INH 69 [70–130]% C4 0.11 [0.1–0.4]g/L | 2.6 y C4 0.08 [0.1–0.4]g/L | 3.8 y c.668_669delA, p.Gln201fsTer10 | |
HAE14 m | 2008 | 3.3/2.7 y | C1INH <0.03 [0.21–0.39]g/L fC1INH <20 [70–130]% C4 0.05 [0.1–0.4]g/L | 1.1 y C1INH <0.25 [0.21–0.39]g/L fC1INH 65 [70–130]% C4 0.04 [0.1–0.4]g/L | 2.7 y c.1-22-2A > G, splicing defect | ||
HAE15 m | 2009 | -/5.3 y | n.d. | 2.4 y C1INH 0.16 [0.21–0.39]g/L fC1INH 65 [70–130]% C4 0.2 [0.1–0.4]g/L | 4.4 y C1INH 0.07 [0.21–0.39]g/L fC1INH 83 [70–130]% C4 0.07 [0.1–0.4]g/L | 5.3 y c.1250-1G > A, splicing defect | |
HAE16 m | 2009 | 3.8/1 y | C1INH <0.03 [0.21–0.39]g/L C4 0.04 [0.1–0.4]g/L | 1 y C1INH 0.13 [0.21–0.39]g/L fC1INH 52 [70–130]% C4 0.11 [0.1–0.4]g/L | 1.7 y c.551_685del, deletion of exon 4 | ||
HAE17 m type II | 2012 | -/2.8 y | n.d. | 2.8 y c.1396 C > T, p.Arg444Cys | |||
HAE18 m | 2012 | -/2.1 y | n.d. | 2.1 y c.762_763delCA, p.Asn232LysfsTer2 | |||
HAE19 m | 2012 | -/1.8 y | fC1INH 20 [70–130]% | 0.9 y C1INH 0.10 [0.21–0.39]g/L fC1INH 56 [70–130]% C4 0.08 [0.1–0.4]g/L | 1.8 y c.1250-1G > A | ||
HAE20 m | 2013 | -/0.5 y | C1INH 0.08 [0.21–0.39]g/L C4 0.14 [0.1–0.4]g/L | 0.5 y c.1-22-2A > C, splicing defect | |||
HAE21 f type II | 2015 | -/0 y | Genetic testing, mutation found | 0 y c.1396 C > T, p.Arg444Cys | |||
HAE22 m | 2016 | -/0 y | Genetic testing, mutation found | 0 y c.762_763delCA, p.Asn232LysfsTer2 |