Table 1.
Lymphocyte counts of individuals with TP63 variant associated with T cell lymphopenia.
| Individual | Variant (NM_003722.4) | TP63 Domain | T cell count | Age (months)* | |||||
|---|---|---|---|---|---|---|---|---|---|
| 1 | 6 | 12 | 24 | 36 | Reference | ||||
| 1 | c.970_972delATT p.I324del |
DBD | CD3+ | 1136 | 835 | 1932 | 2185 | Giampietro et al., (36) | |
| CD4+ | 829 | 605 | 1449 | 1368 | |||||
| CD8+ | 368 | 543 | 527 | 721 | |||||
| 2 | c.1028G>A, p.R343Q | DBD | CD3+ | 1508 | 1536 | 1467 | 1452 | 1433 | Wenger et al., 2018 (37) |
| CD4+ | 1005 | 1092 | 1079 | 940 | 955 | ||||
| CD8+ | 461 | 404 | 304 | 313 | 310 | ||||
| 3 | c.1028G>A, p.R343Q | DBD | CD3+ | 1313 | 1020 | 1785 | 2208 | 1344 | Wenger et al., 2018 (37) |
| CD4+ | 888 | 719 | 1301 | 1500 | 881 | ||||
| CD8+ | 386 | 278 | 363 | 458 | 301 | ||||
| 4 | c.1681T>C, p.C561R | SAM | CD3+ | 1313 | 900 | 890 | 1450 | Helenius et al., (38) | |
| CD4+ | 940 | 730 | 550 | 700 | |||||
| CD8+ | 180 | 120 | 140 | 270 | |||||
| 5 | c.1040 G>A, p.C347Y |
DBD | CD3+ | 108 | 158 | 179 | 191 | This report | |
| CD4+ | 93 | 134 | 140 | 152 | |||||
| CD8+ | ND | 12 | 13 | 20 | |||||
*Age based reference ranges: 1 month: CD3:2300-7000cells/µL; CD4: 1700-5300cells/µL; CD8: 400-1700cells/µL; 6 months: CD3:2400-6900cells/µL; CD4:1400-5100cells/µL; CD8:600-2200cells/µL;12 months: CD3:1600-6700cells/µL; CD4:1000-4600cells/µL; CD8:400-2100cells/µL; 24 months: CD3: 1400-8000cells/µL; CD4: 900-5500cells/µL; CD8:400-2300cells/µL; 36 months: CD3: 900-4500cells/µL; CD4:500-2400cells/µL; CD8: 300-1600cells/µL.
Numbers in bold indicate values below normal range.