Table I.
Haematological & immunological parameters in affected males
Case | I.6 | II.4 | II.14 | II.15 | II.16 | II.20 | II.26 | II.27 | III.10b | III.26b | Normal adult range |
---|---|---|---|---|---|---|---|---|---|---|---|
Age (y) | 45 | 32 | 34 | 33 | 32 | 23 | 18 | 16 | 8 | 7 | |
Leucocytes a | 1.7 | 5.1 | 2.8 | 4 | 2.3 | 1.7 | 2.1 | 3 | 4.6 | 5.2 | 4.0-11 * 109/L |
Neutrophils | 0.4 | 2.4 | 1.0 | 0.1 | 0.5 | 0.5 | 0.2 | 0.5 | 2.0 | 3.3 | 2.0-7.0 * 109/L |
Monocytes | 0.4 | 0.4 | 0.1 | 1.2 | 0.1 | 0.1 | 0.1 | 0.1 | 0.3 | 0.4 | 0.2-1.8 * 109/L |
Eosinophils | 0.0 | 0.1 | 0.2 | 0.1 | 0.0 | 0.0 | 0.2 | 0.2 | 0.1 | 0.1 | 0.02-0.5 * 109/L |
Platelets | 133 | 142 | 149 | 137 | 168 | 131 | 133 | 96 | 279 | 184 | 150-400 * 109/L |
Lymphocytes | 0.7 | 2.2 | 1.4 | 2.6 | 1.5 | 1.1 | 1.6 | 2.2 | 2.0 | 1.4 | 1.0-3.0 * 109/L |
T-cells (CD3+) | 690 | 1621 | 1153 | 2287 | 1418 | 881 | 1248 | 1861 | 1568 | 957 | 900-1700 * 106/L |
CD4+ | 196 | 837 | 572 | 1339 | 752 | 517 | 636 | 955 | 946 | 513 | 700-1100 * 106/L |
CD8+ | 493 | 782 | 646 | 938 | 620 | 337 | 676 | 804 | 692 | 456 | 500-900 * 106/L |
CD4/CD8 ratio | 0.4 | 1.07 | 0.89 | 1.43 | 1.21 | 1.53 | 0.94 | 1.19 | 1.37 | 1.13 | 0.57-2.77 |
B-cells | 75 | 422 | 169 | 410 | 150 | 210 | 268 | 317 | 562 | 304 | 200-400 * 106/L |
NK-cells | 23 | 50 | 39 | 35 | 48 | 21 | 21 | 55 | 42 | 32 | 200-400 * 106/L |
IgA | 0.56 | 1.32 | 1.06 | 1.8 | 0.92 | 0.59 | 0.53 | 1.49 | 0.89 | 0.29 | 0.80-2.80 g/L |
data represent single random values, obtained on the same day for all cases. Values outside the normal range (2.5-97.5 % percentile) are bolded.
For the 2 paediatric cases, follow-up analyses are available in Supplementary Table 1 and 2.