Table 1.
Cell counts and antibody titers of LIG4-deficient siblings.
| P1 | P2 | P3 | Reference Values | |
|---|---|---|---|---|
| Age at evaluation (y) | 23 | 17 (12a) | 12 | |
| WBC (x103/μl) |
4.41
|
8.72 |
3.08
|
P2/P3: 5.5–9.3 P1: 5.0–10.0 |
| Lymphocytes (x103/μl) | 1.15 |
0.82
|
0.52
|
P2/P3: 1.17–2.3 P1: 0.95–2.04 |
| Neutrophils (x103/μl) |
2.47
|
7.3
|
2.17
|
P2/P3: 3.04–6.06 P1: 3.54–7.52 |
| Hemoglobin (g/dl) | 16.7 | 12.5 |
10.6
|
P2/P3: 11.3–13.4 P1: 11.4–15.1 |
| MCV (fl) |
93
|
92.4
|
95.5
|
P2/P3: 82.1–87.7 P1: 82–92 |
| Platelet (x103/μl) | 228 | 238 | 197 | P2/P3: 189–342 P1: 150–450 |
| Immunoglobulins | ||||
| IgG (mg/dL) | 942 | 2380b (149a
) |
628
|
639–1344 (584–1509) P1: 751–1560 |
| IgA (mg/dL) | n.a.c |
<7
(10a
)
|
321
|
70–312 (45–237) |
| IgM (mg/dL) | n.a. |
<5
(18a
)
|
44 | 40–240 (49–230) |
| IgE (units/ml) | n.a. | <1 | 211 | P2: <200 P3: <500 |
| Lymphocyte subsets | ||||
| T cells | ||||
| CD3+ (x103/μl) (%) |
891
(77%) |
771
(82%) |
444
(69%) |
1000–2600 (56–84%) |
| CD3+CD4+ (x103/μl) (%) |
396
(34%) |
308
(33%) |
213
(33%) |
530–1500 (31–52%) |
| CD3+CD8+ (x103/μl) (%) | 469 (41%
) |
410 (44%
) |
195 (30%) | 330–1100 (18–35%) |
| Naive CD4+CD45RA+CCR7+ (%) |
8.65
|
2.1
|
10.7
|
P2/P3: 31.3–69.6 P1: 21–61.4 |
| Effector memory CD4+CD45RA−CCR7− (%) |
26.6
|
23.9 |
30.9
|
P2/P3: 7.8–25.9 P1: 7.6–25.1 |
| Central memory CD4+CD45RA−CCR7+ (%) |
63
|
73.7
|
56.8
|
P2/P3: 21–41.3 P1: 26.8–62.1 |
| Naïve CD8+CD45RA+CCR7+ (%) |
4.32
|
2.1
|
7.7
|
P2/P3: 31.1–73.2 P1: 11.4–66.5 |
| Effector memory CD8+CD45RA−CCR7− (%) | 42.3 |
47.8
|
63.2
|
P2/P3: 8.8–44.4 P1: 16.8–54.6 |
| Central memory CD8+CD45RA−CCR7+ (%) |
41.8
|
48.5
|
24
|
P2/P3: 2.6–8.7 P1: 3.7–23.2 |
| B cells | ||||
| CD19+/μl (%) |
53
(5%
)
|
12
(1%
)
|
10
(2%
) |
110–570 (6–23%) |
| Naïve IgD+CD27− B cells (%) |
46.7
|
76.3 | 63.8 | P2/P3: 51.3–82.5 P1: 48.4–79.7 |
| Switched memory IgD−CD27+ B cells (%) | 22.5 |
7
|
14.7 | P2/P3: 8.7–25.6 P1: 8.3–27.8 |
| Unswitched memory IgD+CD27+ B cells (%) |
25.3
|
1.1
|
16.2 | P2/P3: 4.6–18.2 P1: 7–23.8 |
| Transitional CD24hiCD38hi B cells (%) | 7.05 | 5.8 | 13.3 | P2/P3: 5.3–18.9 |
| Plasmablasts CD24lowCD38hi (%) | 2.4 | 1.6 |
7.9
|
P2/P3: 0.3–2.5 |
| CD19+CD21lowCD38low B cells (%) |
16.6
|
39.7
|
25.7
|
P2/P3:1.1–11.9 |
| Marginal zone-like CD24hiCD38low B cells (%) | 35.3 | 32.4 | 22.7 | P2/P3: 10.7–39.1 |
| NK cells | ||||
| CD3+CD56+/μl (%) | 202 (17%) | 140 (15%) | 171 (27%
) |
70–480 (3–22%) |
| T cell response to mitogen stimulation | ||||
| Con A (CPM) | n.a. | 69450 | 43145 | 74586-1943 |
| PHA (CPM) | n.a. | 55617 | 89873 | 104415-319 |
| Anti-CD3 (CPM) | n.a. | 97836 | 57283 | 78423-2054 |
| T cell mitogen background (CPM) | n.a. | 2496 | 1742 | 321–2510 |
| Response to immunization | ||||
| Tetanus (IU/ml) | n.a. | 0.471 | 2.19 | 0.15–7 |
| Pneumococcal titers (# serotypes with protective titers / 23 serotypes) after vaccination with PSV23 | n.a. | 2/231 | 5/23 |
a
Before start IVIG treatment
b
Under IVIG treatment
c
Not available