Table 1.
Immunophenotype of patients with KLF2 [c.951dup p.(Glu318Argfs*87)] variant.
| Patient | II:1 | II:2 | III:1 | III:2 | IV:1 | IV:2 | ||
|---|---|---|---|---|---|---|---|---|
| Age at sampling | 44 | 73 | 37 | 48 | 20 | 13 | ||
| Gender | M | M | M | F | M | F | ||
| p.(Glu318Argfs*87*) | +/- | +/- | +/- | +/- | +/- | +/- | ||
| Range (adult) | Range (child)** | |||||||
| Leukocytes | 18.0* | 4.5 | 5.7 | 3.3 | 2.7 | 3.4-8.2×109/L | 2.7↓ | 4.5-13.5×109/L |
| Lymphocytes | 12.75* | 0.5↓ | 0.8↓ | 0.4↓ | 0.3↓ | 1.2-3.5×109/L | 1.7 | 1.4-6.8×109/L |
| Monocytes | 0.4* | 0.4 | 0.7 | 0.3 | 0.4 | 0.2-0.8×109/L | 0.3 | <0.18×109/L |
| Neutrophils | 3.76* | 3.6 | 4.1 | 2.5 | 2.0 | 1.6-6.3×109/L | 1.6 | 1.6-9.5×109/L |
| Basophils | 0.05* | 0.02 | 0.03 | 0.02 | 0.01 | <0.09×109/L | 0.02 | <0.05×109/L |
| Platelets | 286* | 147 | 233 | 189 | 154 | 150-360×109/L | 318 | 200-450×109/L |
| NK cells | – | 31 | 111 | 53 | 78 | 84-724×106/L | 99 | 80-1770×106/L |
| CD3+ | – | 442↓ | 806 | 214↓ | 214↓ | 742-2750×106/L | 1186 | 784-5848×109/L |
| TCRαβ+ | – | 97.2 | 99.2 | 94.5 | 97.7 | 88.1-97.8% | 98.0 | na |
| TCRγδ+ | – | 2.8 | 0.8 | 5.5 | 2.3 | 1.9-11.7% | 2.0 | na |
| CD4-CD8-TCRαβ+ | – | 0.1 | 0.2 | 0.6 | 0.7 | 1.5 | na | |
| RTE CD45RA+CD62L+CD31+ |
– | 8↓ (1.9) |
155 (19.2) |
18↓ (8.6) |
31↓ (14.4) |
107-1053×106/L 14.4-38.3% |
415 (35.0) |
na |
| CD62L+ | – | 184↓ (41.6) |
636 (78.9) |
143↓ (66.8) |
174↓ (81.2) |
441-1840×106/L 59.4-66.9% |
950 (80.1) |
na |
| CD4/CD8 | – | 1.3 | 2.7 | 1.8 | 2.1 | 0.6-2.8 | 1.3 | |
| CD3+CD4+ | – | 249↓ | 607 | 134↓ | 145↓ | 404-1612×106/L | 630 | 462-3940×109/L |
| TCM CCR7+CD45RA- |
– | 107 (42.8) |
357 (58.9) |
90 (67.3) |
87 (60.3) |
34-529×106/L (8.4-32.8%) |
265 (42.0) |
na |
| Naive CCR7+CD45RA+ |
– | 17↓ (6.9)↓ |
196 (32.3) |
15↓ (11.3)↓ |
28↓ (19.6)↓ |
83-883×106/L (20.5-54.8%) |
281 (44.6) |
na |
| TEM CCR7-CD45RA- |
– | 51↓ (20.3) |
52↓ (8.5) |
29↓ (21.5) |
29↓ (20.1) |
80-847×106/L (19.9-52.4%) |
83 (13.2) |
na |
| TEMRA CCR7-CD45RA+ |
– | 75 (30.0) |
2↓ (0.3↓) |
0↓ (<0.3↓) |
0↓ (<0.2↓) |
6-274×106/L (1.4-17.0%) |
1↓ (0.2↓) |
na |
| CD62L+ | – | 123↓ (49.4) |
518 (85.4) |
103↓ (77.3) |
119↓ (81.8) |
284-1415×106/L (70.4-87.8%) |
488 (77.4) |
na |
| CD3+CD8+ | – | 187↓ | 222 | 75↓ | 68↓ | 220-1129×106/L | 503 | |
| Naive CCR7+CD45RA+ |
– | 12↓ (6.4) |
111 (49.8) |
25↓ (33.0) |
47 (69.0) |
41-802×106/L 18.8-71.0% |
423 (84.1) |
na |
| TCM CCR7+CD45RA- |
– | 10 (5.5) |
21 (9.4) |
10 (12.9) |
5 (7.8) |
3-82×106/L (1.2-7.3%) |
24 (4.8) |
na |
| TEM CCR7-CD45RA- |
– | 22↓ (11.5) |
39 (17.6) |
21↓ (28.0) |
12↓ (17.2) |
32-711×106/L (14.6-63.0%) |
43 (8.6) |
na |
| TEMRA CCR7-CD45RA+ |
– | 143 (76.6) |
52 (23.2) |
20 (26.1) |
4↓ (6.0) |
10-380×106/L (4.5-33.7%) |
13 (2.6) |
na |
| CD62L+ | – | 78↓ (41.7) |
138 (62.0) |
40↓ (53.3) |
58↓ (84.7) |
80-623×106/L (36.3-55.2%) |
442 (87.9) |
na |
| CD19+ | – | 63↓ | 96 | 56↓ | 78↓ | 80-616×106/L | 431 | 70-1496×106/L |
| Transitional CD38hiIgMhi |
– | 3 (5.0) |
2 (2.3) |
2 (4.3) |
1 (1.5) |
1-22×106/L (0.6-3.5%) |
19 (4.3) |
na |
| Naive CD27-IgD+ IgM+ |
– | 39 (62.2) |
60 (62.4) |
37 (66.4) |
16↓ (19.9)↓ |
35-508×106/L (43.2-82.4%) |
246 (57.0) |
na |
| Memory CD27+ |
– | 37.5 | 37.1 | 33.0 | 79.6 | na | 39.2 | na |
| Marginal zone CD27+IgD+IgM+ |
– | 17 (27.4) |
25 (25.9) |
16 (28.4) |
53 (67.8) |
6-190×106/L (7.2-30.8%) |
139 (32.2) |
na |
| Switched memory CD27+IgD-IgM- |
– | 2↓ (2.4)↓ |
8 (7.9) |
0↓ (<0.7)↓ |
4↓ (5.5)↓ |
5-180×106/L (6.5-29.2%) |
12 2.8↓ |
na |
| Plasmablasts CD38++IgM- |
– | <0.2↓ | <0.3↓ | <0.2↓ | <0.3↓ | 0.4-3.6% | 0.5 | na |
| Activated CD38lowCD21low |
– | 14.4↑ | 5.9 | 10.3↑ | 30.1↑ | 0.8-7.7% | 19.8↑ | na |
| Immunoglobulins | ||||||||
| IgG | 13.5 | 10.4 | 9.8 | 8.5 | 8.2 | 6.77-15 g/L | 3.9↓ | 6.0-14.4g/L |
| IgA | 1.97 | 2.01 | 2.78 | 0.97 | 1.62 | 0.88-4.84 g/L | 0.35↓ | 0.4-2.3g/L |
| IgM | 1.44 | 0.96 | 0.74 | 0.86 | 0.65 | 0.36-2.59 g/L | 0.52 | 0.4-2.1g/L |
| IgE | 12 | 74 | 222 | 10 | 23 | <110 U/L | <2 | <130 |
| IgG1 | – | – | – | 3.7↓ | 3.98↓ | 4.9-11.4 g/L | 3.00↓ | 3.77-11.31g/L |
| IgG2 | – | – | – | >6.2↑ | 3.52 | 1.5-6.4 g/L | 1.06 | 0.68-3.88g/L |
| IgG3 | – | – | – | 0.35 | 0.35 | 0.2-1.1 g/L | 0.14↓ | 0.16-0.89g/L |
| IgG4 | – | – | – | <0.11 | 0.04 | 0.11-1.4 g/L | 0.02 | 0.012-1.7g/L |
| Vaccine response | – | 10/10 | – | 7/7 | 10/10 | 2/10↓*** | ||
**Reference values B and T cell immunophenotyping for children are not available or based on estimates.
***The patient IV:2 received methotrexate treatment during the pneumococcus polysaccharide (Pneumovax®) response testing. All other laboratory values were analyzed before immunosuppressive treatments.
*The blood cell counts were analyzed prior to CLL diagnosis.
↑, increased; ↓, decreased; +/-, heterozygous for KLF2 genetic variant; na, not available.