Peripheral blood immunophenotyping of the index cases of all kindreds
| . | Affected cell lineage (reference range, cells/μL) . | ||||||
|---|---|---|---|---|---|---|---|
| CD14/monocytes (210-660) . | Total lymphocytes (1320-3570) . | CD20/B cells (49-424) . | CD3− CD16+ NK cells (87-505) . | CD3/T cells (650-2108) . | CD4+ T cells (362-1275) . | CD8+ T cells (344-911) . | |
| Autosomal dominant cases | |||||||
| 1.II.1 | 0 | 402 | 2 | 4 | 396 | 124 | 234 |
| 1.II.5 | 20 | 646 | 8 | 69 | 569 | 260 | 273 |
| 2.II.3 | 4 | 179 | 0 | 0 | 179 | 84 | 81 |
| 4.II.1 | 10 | 759 | 4 | 3 | 752 | 246 | 494 |
| 5.II.1 | 25 | 633 | 4 | 5 | 624 | 396 | 205 |
| 13.I.2 | 19 | 1493 | 21 | 22 | 1450 | 301 | 1140 |
| 13.II.1 | 0 | 112 | 1 | 2 | 109 | 37 | 64 |
| Sporadic cases | |||||||
| 3.I.1 | 20 | 442 | 13 | 2 | 427 | 198 | 210 |
| 6.I.1 | 22 | 828 | 16 | 6 | 796 | 408 | 329 |
| 7.I.1 | 13 | 700 | 3 | 55 | 642 | 261 | 364 |
| 8.I.1 | 16 | 807 | 4 | 10 | 793 | 438 | 396 |
| 9.III.1 | 27 | 1987 | 30 | 24 | 1933 | 1021 | 864 |
| 10.I.1 | 21 | 520 | 4 | 1 | 515 | 233 | 246 |
| 11.II.1 | 4 | 1300 | 51 | 39 | 1210 | 538 | 613 |
| 12.I.1 | 0 | 280 | 1 | 0 | 279 | 193 | 80 |
| 14.II.1 | 29 | 1797 | 2 | 22 | 1773 | 808 | 964 |
| 15.II.1 | 9 | 999 | 5 | 24 | 970 | 489 | 432 |
| 16.II.1 | 0 | 747 | 0 | 0 | 747 | 345 | 330 |
| . | Affected cell lineage (reference range, cells/μL) . | ||||||
|---|---|---|---|---|---|---|---|
| CD14/monocytes (210-660) . | Total lymphocytes (1320-3570) . | CD20/B cells (49-424) . | CD3− CD16+ NK cells (87-505) . | CD3/T cells (650-2108) . | CD4+ T cells (362-1275) . | CD8+ T cells (344-911) . | |
| Autosomal dominant cases | |||||||
| 1.II.1 | 0 | 402 | 2 | 4 | 396 | 124 | 234 |
| 1.II.5 | 20 | 646 | 8 | 69 | 569 | 260 | 273 |
| 2.II.3 | 4 | 179 | 0 | 0 | 179 | 84 | 81 |
| 4.II.1 | 10 | 759 | 4 | 3 | 752 | 246 | 494 |
| 5.II.1 | 25 | 633 | 4 | 5 | 624 | 396 | 205 |
| 13.I.2 | 19 | 1493 | 21 | 22 | 1450 | 301 | 1140 |
| 13.II.1 | 0 | 112 | 1 | 2 | 109 | 37 | 64 |
| Sporadic cases | |||||||
| 3.I.1 | 20 | 442 | 13 | 2 | 427 | 198 | 210 |
| 6.I.1 | 22 | 828 | 16 | 6 | 796 | 408 | 329 |
| 7.I.1 | 13 | 700 | 3 | 55 | 642 | 261 | 364 |
| 8.I.1 | 16 | 807 | 4 | 10 | 793 | 438 | 396 |
| 9.III.1 | 27 | 1987 | 30 | 24 | 1933 | 1021 | 864 |
| 10.I.1 | 21 | 520 | 4 | 1 | 515 | 233 | 246 |
| 11.II.1 | 4 | 1300 | 51 | 39 | 1210 | 538 | 613 |
| 12.I.1 | 0 | 280 | 1 | 0 | 279 | 193 | 80 |
| 14.II.1 | 29 | 1797 | 2 | 22 | 1773 | 808 | 964 |
| 15.II.1 | 9 | 999 | 5 | 24 | 970 | 489 | 432 |
| 16.II.1 | 0 | 747 | 0 | 0 | 747 | 345 | 330 |
Total lymphocyte counts were obtained by summing B cells, NK cells, and CD3+ T cells.