Table 1.
Immunological evaluation in X-linked inhibitor of apoptosis (XIAP)G466X patients and female carriers
| Patients |
Carriers |
|||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| III-1*** | III-2 | III-6 | II-5* | II-2 | III-3** | II-3 | II-6 | I-2 | Normal range | |
| T cells CD4+ % | 17 | 30 | 43 | 40 | 39 | 48 | 52 | 51 | 52 | 31–60% |
| T cells CD4+ abs | 442 | 691 | 857 | 801 | 866 | 1025 | 1071 | 1051 | 576 | 410–1590 |
| CD4+ (RA+/CCR7+) | 9·98 | 5·97 | 56·23 | 13·54 | 29·6 | 36·09 | 11·59 | 26·61 | 35·88 | 12·2–61·5 |
| CD4+ (RA−/CCR7+) | 42·76 | 22·91 | 21·05 | 62·63 | 57·43 | 36·25 | 69·41 | 46·83 | 39·54 | 27·2–51·4 |
| CD4+ (RA−/CCR7−) | 46·39 | 70·58 | 20·3 | 23·63 | 12·74 | 27·4 | 13·99 | 25·4 | 22·09 | 7·4–35·6 |
| T cells CD8+ % | 70 | 69 | 34 | 48 | 26 | 30 | 20 | 27 | 19 | 13–41% |
| T cells CD8+ abs | 1828 | 1592 | 677 | 961 | 583 | 640 | 409 | 547 | 204 | 190–1140 |
| CD8+ (CD28+/CD27+) | 58·6 | 69·1 | 69·7 | 62·6 | 82·58 | 70·05 | 87·66 | 75·69 | 70·13 | 34–90·2 |
| CD8+ (CD28−/CD27+) | 21·42 | 5·05 | 19·53 | 17·26 | 6·27 | 23·4 | 7·34 | 16·71 | 13·55 | 5·2–23·2 |
| CD8+ (CD28−/CD27−) | 14·33 | 8·11 | 9·64 | 16·06 | 4·92 | 4·9 | 2·48 | 5·92 | 9·7 | 1·3–56·1 |
| CD3+ (CD4+/CD8+) | 0 | 15 | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 0·2–8·2% |
| CD4/CD8 ratio | 0·24 | 0·43 | 1·3 | 0·83 | 1·5 | 1·6 | 2·6 | 1·9 | 2·7 | 0·9–4·5 |
| CD19+ % | 9 | 9 | 15 | 5 | 19 | 11 | 9 | 11 | 7 | 6–25% |
| CD19+ abs | 236 | 213 | 304 | 99 | 397 | 227 | 216 | 213 | 74 | 90–660 |
| NK cells % | 3 | 5 | 6 | 5 | 12 | 10 | 16 | 8 | 22 | 5–27% |
| NK cells abs | 80 | 108 | 128 | 91 | 244 | 215 | 380 | 147 | 233 | 90–590 |
*
II.5 is healthy, aged 48 years and lacks the CD40LG polymorphism.
**
III-3 has developed atypical severe inflammatory bowel disease.
***
III.1 has developed a Crohn's like disease and recurrent abscesses. NK = natural killer; % = percentage within the lymphocyte gate; abs = absolute number in cells mm3.