Results of family studies
. | . | \(\mathrm{O}_{2}^{-}\) generation*. | . | Bactericidal activity† . | . | . | . | ||
|---|---|---|---|---|---|---|---|---|---|
| Subject . | DHR (% positive) . | fMLP . | PMA . | Autologous serum . | Homologous serum . | Mutation present . | Skewing‡(%) . | ||
| Control (♀) | 99 | 3.35 | 4.24 | 1.35 | 1.17 | No | 72 | ||
| Patient no. 9 | 0.4 | 0 | 0 | 0.15 | 0.35 | Yes | 99 | ||
| Son no. 13 | NT | 3.88 | 6.07 | 1.25 | 1.55 | No | NA | ||
| Daughter no. 15 | 95 | 5.15 | 3.31 | 1.07 | 0.94 | No | 75 | ||
| Daughter no. 16 | NT | 4.99 | 4.98 | 0.92 | 0.84 | No | 54 | ||
| Daughter no. 17 | 100 | 4.27 | 2.92 | 0.98 | 1.00 | No | 71 | ||
| Son no. 18 | NT | 4.48 | 2.94 | 1.31 | 1.45 | No | NA | ||
| Son no. 19 | NT | 2.59 | 3.62 | 1.14 | 1.34 | No | NA | ||
| Daughter no. 20 | 100 | 5.94 | 8.39 | 1.06 | 0.94 | No | 50 | ||
. | . | \(\mathrm{O}_{2}^{-}\) generation*. | . | Bactericidal activity† . | . | . | . | ||
|---|---|---|---|---|---|---|---|---|---|
| Subject . | DHR (% positive) . | fMLP . | PMA . | Autologous serum . | Homologous serum . | Mutation present . | Skewing‡(%) . | ||
| Control (♀) | 99 | 3.35 | 4.24 | 1.35 | 1.17 | No | 72 | ||
| Patient no. 9 | 0.4 | 0 | 0 | 0.15 | 0.35 | Yes | 99 | ||
| Son no. 13 | NT | 3.88 | 6.07 | 1.25 | 1.55 | No | NA | ||
| Daughter no. 15 | 95 | 5.15 | 3.31 | 1.07 | 0.94 | No | 75 | ||
| Daughter no. 16 | NT | 4.99 | 4.98 | 0.92 | 0.84 | No | 54 | ||
| Daughter no. 17 | 100 | 4.27 | 2.92 | 0.98 | 1.00 | No | 71 | ||
| Son no. 18 | NT | 4.48 | 2.94 | 1.31 | 1.45 | No | NA | ||
| Son no. 19 | NT | 2.59 | 3.62 | 1.14 | 1.34 | No | NA | ||
| Daughter no. 20 | 100 | 5.94 | 8.39 | 1.06 | 0.94 | No | 50 | ||
NT indicates not tested; NA, not applicable.
In nmoles per 106 PMN per minute.
Toward S aureus, in log decrease of colony-forming units.
Skewing was defined as percentage change in HUMARA PCR signal caused by HpaII; 50% means equal distribution of methylated and unmethylated gene, that is, no skewing; whereas 99% means that HUMARA on one X chromosome is preferentially methylated, that is, very strong skewing.