Table 2. Cellular Immunophenotype for proband (P), sibling (S) and father (F).
Assessments of T, B and NK cells in each patient across multiple timepoints. Bolded values are abnormal, normal ranges are in parentheses.
| Patient | F | F | F | B | B | B | P | P |
|---|---|---|---|---|---|---|---|---|
| Age at analysis (years) | 45 | 49 | 62 | 17 | 22 | 25 | 18 | 23 |
| Leukocytes (thousands of cells/ul) | 8.32 (4–11) | 7.93 (5.8–9.3) | ||||||
| CD3+ T cells (cells/ul) | 1364 (794–2508) | 1282 (794–2503) | 1336 (617–2254) | 2560 (958–2388) | 1642 (677–2383) | 2318 (677–2383) | 1118 (1000–2600) | 1359 (700–2100) |
| CD4+ T cells (cells/ul) | 1048 (501–1608) | 980 (490–1546) | 1118 (430–1513) | 1544 (533–1674) | 1000 (424–1509) | 1339 (424–1509) | 590 (530–1500) | 620 (300–1400) |
| CD8+ T cells (cells/ul) | 266 (256–900) | 287 (265–1509) | 197 (101–839) | 945 (284–958) | 598 (169–955) | 889 (169–955) | 428 (330–1100) | 569 (200–900) |
| CD4:CD8 ratio | 3.94 (1.2–3.65) | 3.4 (0.5–3.3) | 5.67 (>1) | 1.63 (1.10–3.25) | 1.67 (>1) | 1.51 (>1) | 1.38 (0.9–3.7) | 1.1(1–3.6) |
| CD19+ B cells (cells/ul) | 116 (98–434) | 33 (60–597) | 90 (31–409) | 558 (75–660) | 476 (99–527) | 502.1 (90–539) | 388 (110–570) | 215 (100–500) |
| Percent Switched memory B cells (CD27+IgM-/CD27- % of CD19 cells for F, B and CD19+ CD27+IgD- for P) | 0% (2.3–26.5%) | 2.1% (2.3–26.5) | 0.4% (no nl range quoted) | 0.6%, (4.6–33%) (CD27+Ig M-CD19+ 0.3% (3.9–30.7%)) | ||||
| CD16/CD56+ NK cells (cells/ul) | 200 (113–461) | 171 (110–857) | 92 (102–565) | 122 (101–678) | 163 (101–678) | 44 (90–600) |