Table 3.
Immunological features of the RTEL1-deficient patients
| Characteristic | P1* | P2* | P3 | P4 | P5† | P6† | P7 | P8 | Normal Values | ||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Age at evaluation | 20 mo | 6 mo | 21 mo | 44 mo | 25 mo | 15 mo | 32 mo | 15 y | 6-24 mo* | 24 mo-6 y | >12 y |
| Lymphocyte counts | |||||||||||
| Total count, /μL | 800 | 1300 | 1200 | 1300 | 700 | 840 | 1000 | 600 | 3400-8900 | 2300-5400 | 1400-3300 |
| CD3+ count, /μL | 640 | 1170 | 1080 | 1040 | 679 | 790 | 910 | 548 | 1900-5900 | 1400-3700 | 1000-2200 |
| CD3+CD4+, /μL | 424 | 780 | 720 | 592 | 532 | 585 | 420 | 275 | 1400-4300 | 700-2200 | 530-1300 |
| CD45RA+/CD4+, % | 81 | 95 | 72 | NA | 65 | 59 | 83 | NA | 88-95 | 58-70 | 58-70 |
| CD45RA+CD31+/CD4+, % | 57 | 67 | 51 | NA | NA | NA | 53 | NA | 60-72 | 43-55 | 43-55 |
| CD3+CD8+, /μL | 184 | 247 | 216 | 337 | 154 | 172 | 400 | 254 | 500-1700 | 490-1300 | 330-920 |
| CCR7+CD45RA+/CD8+, % | NA | NA | 10 | NA | NA | NA | 45 | NA | 52-68 | 52-68 | 52-68 |
| CCR7+CD45RA−/CD8+, % | NA | NA | 1 | NA | NA | NA | 2 | NA | April 3 | April 3 | April 3 |
| CCR7−CD45RA−/CD8+, % | NA | NA | 76 | NA | NA | NA | 20 | NA | November 20 | November 20 | November 20 |
| CCR7−CD45RA+/CD8+, % | NA | NA | 13 | NA | NA | NA | 32 | NA | 16-28 | 16-28 | 16-28 |
| CD19+, /μL | 16 | 0 | 72 | 65 | 0 | 18 | 40 | 74 | 610-3500 | 390-1400 | 110-570 |
| CD3−CD56+CD16+, /μL | 24 | 78 | 24 | 149 | 7 | 8 | 50 | 179 | 160-950 | 130-720 | 70-480 |
| Ig levels at first evaluation | |||||||||||
| IgG, g/L | 2.2 | 0.4 | 1.92 | 8.46 | 2.92 | 6.98 | 4 | NA | 3.5-8.96 | 5.82-11.54 | 6.55-12.29 |
| IgA, g/L | 0.13 | <0.06 | 0.15 | 0.62 | 0.9 | 1.12 | 0.75 | NA | 0.33-1.22 | 0.46-1.57 | 0.5-2.03 |
| IgM, g/L | 0.04 | <0.06 | 0.2 | 0.56 | 0.54 | 0.56 | 0.3 | NA | 0.5-1.52 | 0.54-1.55 | 0.53-1.62 |
| Serologic testing | NA | NA | Tetanos+; diphteriae+/− | NA | NA | NA | Tetanos+/−; anti-HBs+;S Pneumo- | NA | |||
| T-cell proliferation | |||||||||||
| PHA | Diminished | Normal | Normal | NA | Diminished | Normal | Diminished | NA | |||
| OKT3 | NA | Normal | Normal | NA | NA | NA | NA | NA | |||
| Tetanus toxoid | Diminished | Diminished | Normal | NA | NA | NA | NA | NA | |||
| Candidin | Diminished | Diminished | Diminished | NA | NA | NA | NA | NA | |||
*
P1 and P2 are siblings.
†
P5 and P6 are siblings.