Table1.
Hematological and immunological parameters in POLD1R1060C patients.
| P1 | P2 | P3 | |||||||
|---|---|---|---|---|---|---|---|---|---|
| Age | 12yrs | 13yrs (On IVIG) |
Normal range for age |
3yrs | 4yrs | 5yrs | Normal range for age |
29yrs | Normal range for age |
| CBC | |||||||||
| WBC (cells/μl) | 4300 | 4860 | 4500-13000 | 3260 | 3070 | 1830 | 5000-14500 | 6720 | 4000-10000 |
| Neutrophils(cells/μl) | 3100 | 3430 | 1500-7300 | 1970 | 1740 | 900 | 1500-8000 | 5370 | 1500-7300 |
| Lymphocytes(cells/μl) | 600 | 430 | 1200-5200 | 765 | 971 | 470 | 1500-7000 | 780 | 800-5500 |
| Eosinophils cells/μl) | 20 | 260 | 200-600 | 2 | 134 | 130 | 200-600 | 70 | 200-600 |
| Hemoglobin(g/dL) | 12.8 | 14.2 | 12.1-17.2 | 13.0 | 13.1 | 13 | 11.1-17.2 | 11.9 | 12.1-17.2 |
| Platelets(cells/μl) | 344000 | 348000 | 150000-400000 | 360000 | 323000 | 244000 | 150000-400000 | 152000 | 150000-400000 |
| Immunoglobulins | |||||||||
| IgA (mg/dL) | 23 | 23 | 72-177 | 26 | 28 | 46-129 | 42.1 | 65-176 | |
| IgM (mg/dL) | 49 | 55 | 63-164 | 97 | 97 | 50-146 | 126 | 86-175 | |
| IgG (mg/dL) | 723 | 911 | 822-1323 | 588 | 568 | 722-1195 | 902 | 944-1506 | |
| IgE (IU) | 17 | 19 | 18 | 19 | 68 | 18 | |||
| Specific antibody response | |||||||||
| Anti-Tetanus IgG (IU/mL) | 0.01 | 0.65 | >0.1 | 0.01 | 0.2* | >0.1 | 0.1 | >0.1 | |
| Isohemaglutinin titer (dilutions) | 1/16 | 1/16 | >1/16 | 1/32 | 1/64 | >1/16 | 1/16 | >1/16 | |
| Anti Hepatitis B antibodies (IU) | 319 | >10 | 38 | 624 | >10 | 0.06 | >10 | ||
| Lymphocyte subset analysis | |||||||||
| CD3+ cells/μl | 330 | 177 | 1000-2600 | 337 | 437 | 100 | 1400-6200 | 252 | 1000-2600 |
| CD3+CD4+ cells/μl | 102 | 66 | 530-1500 | 145 | 184 | 57 | 700-2200 | 101 | 530-1500 |
| CD3+CD8+ cells/μl | 186 | 89 | 330-1100 | 176 | 233 | 105 | 490-1300 | 135 | 330-1100 |
| CD19+ cells/μl | 120 | 151 | 110-570 | 337 | 456 | 239 | 390-1400 | 85 | 110-570 |
| CD16+CD56+ cells/μl | 12 | 46 | 70-480 | 61 | 58 | 61 | 130-720 | 402 | 70-480 |
| CD3+TCR α/β+ cells/μl | 213 | 700-2800 | 466 | 600-4300 | 600-3300 | ||||
| CD3+ TCR γ/δ+ cells/μl | 54 | 39-540 | 39 | 27-960 | 25-200 | ||||
| CD4+CD45RA+CD31+% | 13.0 | 32.9-61.5 | 48.0 | 52-67 | 5 | 9.8-43.2 | |||
| CD19+IgD+CD27−% | 62.6 | 51.3-82.5 | 61.8 | 47.3-77.0 | 64 | 48.4-79.7 | |||
| CD19+IgD−CD27+% | 7.0 | 2.06 | 8.7-25.6 | 6.1 | 1.12 | 10.9-30.4 | 1.86 | 8.3-27.8 | |
| CD19+ IgD+CD27+% | 0.53 | 4.6-18.2 | 0.49 | 5.2-20.4 | 0.47 | 7.0-23.8 | |||
| CD19+CD24+CD38+ % | 5.48 | 5.3-18.9 | 4.43 | 7.4-23.7 | 0.7 | 2.2-13.3 | |||
*
post-booster vaccination.