Main Immunological Features
| Surface Markers . | Patient M.F. . | Patient N.F. . | Patient S.F. . | Mother . | Father . | Normal Values (mean ± SD) . |
|---|---|---|---|---|---|---|
| Immunophenotypical analysis (%) | ||||||
| CD2 | 84 | 91 | 84 | ND | ND | 80 ± 6 |
| CD3 | 73 | 88 | 80 | 81 | 75 | 71 ± 7 |
| CD4 | 13 | 28 | 30 | 45 | 57 | 40 ± 7 |
| CD8 | 42 | 37 | 26 | 35 | 16 | 25 ± 5 |
| CD16 | 9 | 6 | 7 | ND | ND | 11 ± 5 |
| CD19 | 13 | 11 | 12 | ND | ND | 18 ± 6 |
| HLA-DR | 41 | 23 | 25 | ND | ND | 20 ± 8 |
| CD4− CD8− among CD3+ | 30 | 21 | 26 | 2 | 3 | <5 |
| TCRAB+ among CD4− CD8− | 41 | 45 | 37 | <1 | <1 | <3 |
| HLA-DR+ among CD3+ | 33 | 19 | 18 | ND | ND | <10 |
| CD2+ among CD3+ | 97 | 98 | 95 | ND | ND | >95 |
| CD28− among CD4+ | 12 | 15 | 3 | 3 | 3 | <5 |
| CD28− among CD8+ CD3+ | 76 | 68 | 57 | 40 | 44 | 41 ± 14 |
| Surface Markers . | Patient M.F. . | Patient N.F. . | Patient S.F. . | Mother . | Father . | Normal Values (mean ± SD) . |
|---|---|---|---|---|---|---|
| Immunophenotypical analysis (%) | ||||||
| CD2 | 84 | 91 | 84 | ND | ND | 80 ± 6 |
| CD3 | 73 | 88 | 80 | 81 | 75 | 71 ± 7 |
| CD4 | 13 | 28 | 30 | 45 | 57 | 40 ± 7 |
| CD8 | 42 | 37 | 26 | 35 | 16 | 25 ± 5 |
| CD16 | 9 | 6 | 7 | ND | ND | 11 ± 5 |
| CD19 | 13 | 11 | 12 | ND | ND | 18 ± 6 |
| HLA-DR | 41 | 23 | 25 | ND | ND | 20 ± 8 |
| CD4− CD8− among CD3+ | 30 | 21 | 26 | 2 | 3 | <5 |
| TCRAB+ among CD4− CD8− | 41 | 45 | 37 | <1 | <1 | <3 |
| HLA-DR+ among CD3+ | 33 | 19 | 18 | ND | ND | <10 |
| CD2+ among CD3+ | 97 | 98 | 95 | ND | ND | >95 |
| CD28− among CD4+ | 12 | 15 | 3 | 3 | 3 | <5 |
| CD28− among CD8+ CD3+ | 76 | 68 | 57 | 40 | 44 | 41 ± 14 |
| Patient M.F. (PBMC) | Patient M.F. (CD4− CD8− PBMC) | Healthy control (PBMC) | |
| Proliferative response | 190 ± 9 | 800 ± 95 | 2,200 ± 140 |
| Medium | |||
| PHA (1.2 μg/mL) | 35,550 ± 1,050 | 4,100 ± 35 | 51,500 ± 3,200 |
| CD3 (200 ng/mL) | 46,500 ± 270 | 2,000 ± 12 | 61,550 ± 1,600 |
| CD3 (200 ng/mL) + IL2 (20 U/mL) | 64,050 ± 680 | 7,350 ± 7 | 74,600 ± 920 |
| SEB (500 ng/mL) | 30,150 ± 920 | 1,600 ± 52 | 57,700 ± 920 |
| Patient M.F. (PBMC) | Patient M.F. (CD4− CD8− PBMC) | Healthy control (PBMC) | |
| Proliferative response | 190 ± 9 | 800 ± 95 | 2,200 ± 140 |
| Medium | |||
| PHA (1.2 μg/mL) | 35,550 ± 1,050 | 4,100 ± 35 | 51,500 ± 3,200 |
| CD3 (200 ng/mL) | 46,500 ± 270 | 2,000 ± 12 | 61,550 ± 1,600 |
| CD3 (200 ng/mL) + IL2 (20 U/mL) | 64,050 ± 680 | 7,350 ± 7 | 74,600 ± 920 |
| SEB (500 ng/mL) | 30,150 ± 920 | 1,600 ± 52 | 57,700 ± 920 |
Proliferation studies of M.F. patients' total and CD3+ CD4− CD8− enriched PBMC. Data are expressed as the mean cpm ± SEM of a triplicate culture. Similar results were obtained for patients N.F. and S.F. (data not shown).
Abbreviation: ND, not determined.