Table 2.
Immunological testing
| Test | III.1 (proband) | III.2 | II.2 |
|---|---|---|---|
| IgG (7.5–15.6 g/L) | 4.9 | 5.7 | 10.1 |
| IgA (0.8–4.5 g/L) | < 0.1 | 0.5 | 3.0 |
| IgM (0.4–3.0 g/L) | 0.8 | 0.1 | 0.5 |
| IgE (0–160 KU/L) | < 1 | ||
| CD4 T-cell | |||
| (0.4–1.6 × 109/L) | 0.2 × 109/L | 0.4 × 109/L | 0.4 × 109/L |
| (31–59%) | 57% | 51% | 52% |
| CD8 T-cell | |||
| (0.2–0.9 × 109/L) | 0.1 × 109/L | 0.2 × 109/L | 0.2 × 109/L |
| (12–42%) | 29% | 27% | 21% |
| B-cells | |||
| (0.1–0.6 × 109/L) | 0.03 × 109/L | 0.07 × 109/L | 0.1 × 109/L |
| (6–26%) | 7% | 9% | 13% |
| NK-cells | |||
| (0.06–0.8 × 109/L) | 0.02 × 109/L | 0.04 | 0.08 × 109/L |
| (7–28%) | 5% | 5% | 11% |
| Switched memory B-cells | |||
| No RR | 0.0 × 109/L | 0.00 × 109/L | 2 (5–62 cells/μL)a |
| (6.5–29.2%) | 0.4% | 1.9% | 0.33% (0.4–3.3%)a |
| CD21lo cells | |||
| No RR | 27% | 17% | N/A |
| Naïve T-cells | |||
| (0.1–0.6 × 109/L) | 0.06 × 109/L | 0.21 × 109/L | N/A |
| (26–60%) | 21% | 58.5% | |
| T-cell proliferation | |||
| (patient vs control) | 27% vs 59.6% | N/A | N/A |
| Regulatory T-cells | |||
| (0.025–0.180 × 109/L) | 0.009 × 109/L | 0.014 × 109/L | 0.019 × 109/L |
| (4–17%) | 3.2% | 4.3% | 5.1% |
| Soluble CD25 | |||
| (186–2678 pg/mL) | 5307 | 5753 | N/A |
aTested in a different laboratory, reference ranges noted