Phenotype of the ex-6 –3C>G mutation
. | Ex6-3C→G . | Normal sequence . |
|---|---|---|
| Membrane CD95 expression* | 90 ± 110 | 240 ± 90 |
| sCD95 production (ng/mL)† | 23 ± 7 | 4 ± 2 |
| Apoptosis‡ | 15 ± 8 | 52 ± 15 |
| Clinical phenotype | 1 of 4 had transient ALPS, all 4 are healthy | Healthy control donors, n = 10 |
. | Ex6-3C→G . | Normal sequence . |
|---|---|---|
| Membrane CD95 expression* | 90 ± 110 | 240 ± 90 |
| sCD95 production (ng/mL)† | 23 ± 7 | 4 ± 2 |
| Apoptosis‡ | 15 ± 8 | 52 ± 15 |
| Clinical phenotype | 1 of 4 had transient ALPS, all 4 are healthy | Healthy control donors, n = 10 |
Data were presented as mean ± standard deviation; P < .01, signed rank test.
Mean channel fluorescence, arbitrary units; membrane CD95, n = 8 measurements on affected family members.
n = 8.
Annexin- and PI-positive activated peripheral T cells in percent (induced minus spontaneous apoptosis is given; see “Patients, materials, and methods”).