Table 3.
Lymphocytes subsets evaluated by SCID-RTE tube.
| Patient code | Disease | Category | CD3+ of Lym | CD3+ abs | TCRgd+ of T | TCRgd+ abs | CD4+ T of T | CD4+T abs | CD8+ T of T | CD8+T abs | CD4+RTE of CD4 | CD4+RTE abs | Naive CD4+ of CD4 | Naive CD4+ abs | Naive CD8+ of CD8 | Naive CD8+ abs | HLA-DR+ of CD4 | HLA-DR+ CD4+ abs | HLA-DR+ of CD8 | HLA-DR+ CD8+ abs |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Case_1 | CD3E | SCID | 7 | 246 | 0 | 0 | 5 | 13 | 93 | 228 | 0 | 0 | 0 | 0 | 2 | 5 | 93 | 12 | 83 | 188 |
| Case_2 | ADA | SCID | 55 | 18 | 13 | 2 | 1 | 0 | 83 | 15 | 0 | 0 | 0 | 0 | 0 | 0 | n/a | n/a | 93 | 14 |
| Case_3 | JAK3 | SCID | 69 | 5,610 | 1 | 67 | 4 | 210 | 94 | 5,256 | 0 | 0 | 0 | 1 | 2 | 117 | 64 | 134 | 95 | 4,967 |
| Case_4 | JAK3 | SCID | 2 | 15 | 3 | 0 | 1 | 0 | 85 | 12 | 0 | 0 | 0 | 0 | 0 | 0 | n/a | n/a | 99 | 12 |
| Case_5 | JAK3 | SCID | 80 | 2,247 | 0 | 4 | 98 | 2,202 | 1 | 23 | 0 | 0 | 0 | 1 | 0 | 0 | 86 | 1,896 | 86 | 19 |
| Case_6 | XLF | SCID | 38 | 294 | 89 | 263 | 0 | 1 | 2 | 7 | 0 | 0 | 0 | 0 | 0 | 0 | n/a | n/a | 64 | 5 |
| Case_7 | Artemis | SCID | 18 | 84 | 55 | 46 | 38 | 31 | 1 | 1 | 6 | 2 | 6 | 2 | 31 | 0 | 88 | 28 | 44 | 0 |
| Case_8 | RAG2 | SCID | 2 | 40 | 1 | 1 | 71 | 29 | 1 | 0 | 0 | 0 | 0 | 0 | 17 | 0 | 91 | 26 | n/a | n/a |
| Case_9 | RAG2 | SCID | 32 | 78 | 5 | 4 | 86 | 67 | 5 | 4 | 0 | 0 | 0 | 0 | 3 | 0 | 66 | 44 | 77 | 3 |
| Case_10 | RAG1 | SCID | 68 | 4,621 | 3 | 158 | 43 | 1,964 | 44 | 2,024 | 0 | 0 | 0 | 0 | 0 | 1 | 85 | 1,661 | 86 | 1,739 |
| Case_11 | RAG1 | SCID | 69 | 1,916 | 6 | 109 | 88 | 1,690 | 3 | 64 | 0 | 0 | 0 | 2 | 1 | 1 | 68 | 1,154 | 83 | 53 |
| Case_12 | IL2RG | SCID | 12 | 92 | 0 | 0 | 71 | 65 | 28 | 25 | 0 | 0 | 0 | 0 | 4 | 1 | 94 | 61 | 81 | 20 |
| Case_13 | IL2RG | SCID | 0 | 1 | 5 | 0 | 31 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | n/a | n/a | n/a | n/a |
| Case_14 | IL2RG | SCID | 45 | 677 | 25 | 171 | 48 | 325 | 23 | 156 | 0 | 0 | 1 | 3 | 7 | 11 | 87 | 282 | 94 | 147 |
| Case_15 | IL2RG | SCID | 0 | 1 | 17 | 0 | 58 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | n/a | n/a | n/a | n/a |
| Case_16 | PNP | other PID | 63 | 281 | 3 | 7 | 48 | 134 | 37 | 105 | 0 | 0 | 0 | 0 | 0 | 0 | 63 | 84 | 99 | 103 |
| Case_17 | ZAP70 | other PID | 51 | 1,661 | 3 | 47 | 89 | 1,482 | 2 | 29 | 24 | 357 | 34 | 505 | 19 | 5 | 17 | 246 | 30 | 9 |
| Case_18 | WAS | other PID | 50 | 1,092 | 4 | 41 | 82 | 891 | 13 | 138 | 53 | 470 | 82 | 730 | 56 | 78 | 3 | 23 | 3 | 4 |
| Case_19 | WAS | other PID | 57 | 978 | 28 | 271 | 31 | 303 | 38 | 376 | 18 | 55 | 40 | 122 | 6 | 23 | 39 | 119 | 85 | 319 |
| Case_20 | del22q11.2 | other PID | 50 | 328 | 37 | 122 | 15 | 47 | 3 | 9 | 0 | 0 | 0 | 0 | 1 | 0 | 43 | 21 | 65 | 6 |
| Case_21 | del22q11.2 | other PID | 0 | 1 | 10 | 0 | 0 | 0 | 70 | 1 | 0 | 0 | 0 | 0 | 14 | 0 | n/a | n/a | 58 | 1 |
| Case_22 | del22q11.2 | other PID | 27 | 1,592 | 9 | 138 | 65 | 1,030 | 22 | 344 | 56 | 579 | 71 | 729 | 87 | 300 | 5 | 56 | 4 | 14 |
| Case_23 | del22q11.2 | other PID | 33 | 756 | 8 | 63 | 65 | 493 | 22 | 169 | 50 | 246 | 72 | 356 | 87 | 147 | 4 | 20 | 4 | 7 |
| Case_24 | CDC42 | other PID | 63 | 465 | 39 | 180 | 34 | 159 | 23 | 107 | 40 | 63 | 66 | 105 | 58 | 63 | 6 | 10 | 21 | 22 |
| Case_25 | FOXP3 | other PID | 61 | 1,664 | 1 | 22 | 70 | 1,157 | 22 | 363 | 40 | 465 | 66 | 765 | 81 | 295 | 4 | 48 | 5 | 19 |
| Case_26 | FAS | other PID | 86 | 12,833 | 3 | 444 | 26 | 3,324 | 15 | 1,912 | 58 | 1,938 | 81 | 2,692 | 92 | 1,761 | 11 | 356 | 5 | 88 |
| Controls | ||||||||||||||||||||
| 5th percentile | 52 | 2,010 | 0.7 | 20 | 54 | 1,201 | 13 | 335 | 58 | 840 | 72 | 1,030 | 60 | 287 | 0 | 9 | 0 | 2 | ||
| 95th percentile | 86 | 6,626 | 7 | 340 | 82 | 4,094 | 35 | 2,204 | 86 | 2,393 | 96 | 3,149 | 96 | 1,614 | 3 | 66 | 11 | 80 | ||
| Sensitivity other PID | 55% | 91% | 55% | 20% | 55% | 82% | 27% | 64% | 91% | 91% | 73% | 91% | 64% | 73% | 90% | 40% | 55% | 27% | ||
| Sensitivity SCID | 67% | 80% | 33% | 60% | 60% | 80% | 53% | 87% | 100% | 100% | 100% | 100% | 100% | 100% | 100% | 50% | 100% | 33% | ||
Absolute counts (abs) as 10e3/μl. Values outside the normal range are in bold. Range obtained in controls (5th and 95th percentile) is given below the table. Sensitivity to disclose abnormal values in other PID and SCID group is given for each measurement in the bottom two rows. Most informative parameters are highlighted in gray.