ID sex | Born | Age when HAE was refuted | Cord blood samples [reference values for adults] | Peripheral complement measurements [reference values for adults] | Genetic testing | |
---|---|---|---|---|---|---|
Non1 m | 1996 | 4.8 y | n.d. | 4.8 y fC1INH 121 [70–130]% | n.d. | |
Non2 m | 1997 | 1.5 y | n.d. | 1.5 y C1INH 162 [80–140]units fC1INH 168 [70–130]% | n.d. | |
Non3 m | 1997 | 18.1 y | n.d. | 2.9 y Reported as normal, but missing | 18.1 y Family mutation ruled out | |
Non4 f | 1997 | 14.9 y | n.d. | <14.6 y (exact age unknown) Reported as normal (missing) | 14.9 y C1INH 0.33 [0.21–0.39]g/L fC1INH 120 [70–130]% C4 0.18 [0.1–0.4]g/L | n.d. |
Non5 m | 1999 | 15.7 y | n.d. | 0.1 y fC1INH 81 [70–130]% | 15.7 y Family mutation ruled out | |
Non6 m | 1999 | 16.1 y | n.d | 1 y fC1INH 166 [70–130]% | 16.1 y Family mutation ruled out | |
Non7 f | 1999 | 1.9 y | n.d. | 1.9 y fC1INH 110 [70–130]% | n.d. | |
Non8 f | 2000 | 6.4 y | n.d. | 6.4 y C1INH 0.27 [0.21–0.39]g/L fC1INH 106 [70–130]% C4 0.2 [0.1–0.4]g/L | n.d. | |
Non9 m | 2000 | 5.9 y | n.d. | 4.3 y C1INH 0.34 [0.21–0.39]g/L fC1INH 129 [70–130]% C4 0.11 [0.1–0.4]g/L | 5.9 y C1INH 0.34 [0.21–0.39]g/L fC1INH 135 [70–130]% C4 0.19 [0.1–0.4]g/L | n.d. |
Non10 m | 2002 | 9.1 y | n.d. | 9.1 y C1INH 0.32 [0.21–0.39]g/L fC1INH 116 [70–130]% C4 0.27 [0.1–0.4]g/L | n.d. | |
Non11 m | 2003 | 3.2 y | n.d. | 1.5 y C1INH 0.38 [0.21–0.39]g/L fC1INH 117 [70–130]% C4 0.13 [0.1–0.4]g/L | 3.2 y C1INH 0.32 [0.21–0.39] g/L fC1INH 134 [70–130]% C4 0.22 [0.1–0.4]g/L | n.d. |
Non12 m | 2008 | 1.3 y | n.d. | 1.3 y C1INH 0.4 [0.21–0.39]g/L fC1INH 174 [70–130]% C4 0.33 [0.1–0.4]g/L | n.d. | |
Non13 m | 2008 | 1 y | Taken, but not analyzed | 0.8 y C1INH 0.41 [0.21–0.39]g/L fC1INH 179 [70–130]% C4 0.31 [0.1–0.4]g/L | 1 y C1INH 0.35 [0.21–0.39]g/L fC1INH 143 [70–130]% C4 0.39 [0.1–0.4] g/L | n.d. |
Non14 m | 2009 | 4.4 y | n.d | 2.4 y C1INH 0.3 [0.21–0.39]g/L fC1INH 130 [70–130]% C4 0.26 [0.1–0.4]g/L | 4.4 y C1INH 0.26 [0.21–0.39]g/L fC1INH 123 [70–130]% C4 0.24 [0.1–0.4]g/L | 5.3 y Family mutation ruled out |
Non15 f | 2009 | 1 y | C1INH 0.2 [0.21–0.39]g/L C4 0.14 [0.1–0.4]g/L | 1 y C1INH 0.43 [0.21–0.39]g/L fC1INH 168 [70–130]% C4 0.21 [0.1–0.4]g/L | 1 y Family mutation ruled out | |
Non16 m | 2010 | 0.3 y | C1INH 0.17 [0.21–0.39]g/L C4 0.16 [0.1–0.4]g/L | 1.4 y C1INH 0.57 [0.21–0.39]g/L fC1INH 252 [70–130]% C4 0.5 [0.1–0.4]g/L | 0.3 y Family mutation ruled out | |
Non17 m | 2013 | 0 y | Taken for complement measurement, but mishandled. Instead used for genetic testing. | 0 y Family mutation ruled out | ||
Non18 f | 2014 | 0 y | n.d. | <0 y Chorionic villous sampling. Family mutation ruled out | ||
Non19 f | 2015 | 0 y | Genetic testing, family mutation ruled out | 0 y Family mutation ruled out |