Table 2.
Immunological parameters of LRBA patients
| P1 | P2 | P3 | P4 | P5 | P6 | P7 | |
|---|---|---|---|---|---|---|---|
| Hb (g/dL) | 7.1 | 14.6 | 9.6 | 11.6 | 14.7 | 15.4 | 14.1 |
| Total lymphocyte count (/mm3) | 1000 | 846 | 5000 | 5400 | 2600 | 5390 | 3820 |
| Total neutrophil count (/mm3) | 3600 | 6100 | 2700 | 1900 | 11,500 | 3220 | 5000 |
| Platelet count (/mm3) | 91,000 | 232,000 | 576,000 | 164,000 | 238,000 | 165,000 | 348,000 |
| IgA (mg/dL) |
310 67–433 |
ND |
59 7–123 |
327 67–433 |
64 70–303 |
107 100–447 |
114 70–303 |
| IgG (mg/dL) |
1540 835–2094 |
ND |
785 304–1231 |
1140 835–2094 |
928 764–2124 |
958 913–1184 |
1260 764–2124 |
| IgM (mg/dL) |
277 47–484 |
ND |
133 32–203 |
46 47–484 |
171 69–387 |
172 88–322 |
106 69–387 |
| IgE (kU/mL) | 15.2 | ND | < 0.2 | 3.8 | 39.4 | 3.86 | 5 |
| CD3 + CD16–56- [%(/mm3)] |
85 (850) 55–79 (1000–2200) |
84 (711) 55–79 (1000–2200) |
66 (3300) 55–79 (1900–5900) |
67 (3618) 55–79 (1000–2200) |
72 (1872) 55–79 (1400–3700) |
69 (3719) 55–79 (1000–2200) |
72 (2750) 55–79 (1400–3700) |
| CD3-CD16 + 56+ [%(/mm3)] |
12 (120) 5–28 (70–480) |
13 (110) 5–28 (70–480) |
8 (400) 5–28 (160–950) |
18 (972) 5–28 (70–480) |
3 (78) 5–28 (130–720) |
13 (701) 5–28 (70–480) |
4 (153) 5–28 (130–720) |
| CD3 + CD4+ [%(/mm3)] |
64 (640) 26–49 (530–1300) |
21 (178) 26–49 (530–1300) |
30 (1500) 26–49 (1300–4300) |
43 (2322) 26–49 (530–1300) |
36 (988) 26–49 (700–2200) |
40 (2156) 26–49 (530–1300) |
42 (1604) 26–49 (700–2200) |
| CD3 + CD8 + [%(/mm3)] |
20 (200) 9–35 (60–310) |
60 (508) 9–35 (60–310) |
30 (1500) 9–35 (620–2000) |
24 (1296) 9–35 (60–310) |
30 (780) 9–35 (490–1300) |
27 (1455) 9–35 (60–310) |
26 (993) 9–35 (490–1300) |
| CD19+ [%(/mm3)] |
4 (40) 11–31 (110–570) |
12 (101) 11–31 (110–570) |
22 (1100) 11–31 (720–2600) |
13 (702) 11–31 (110–570) |
25 (650) 11–31 (390–1400) |
14 (754) 11–31 (110–570) |
16 (611) 11–31 (390–1400) |
| CD20 + [%(/mm3)] |
4 (40) 11–29 (110–570) |
13 (111) 11–29 (110–570) |
20 (1000) 11–29 (720–2600) |
13 (702) 11–29 (110–570) |
24 (624) 11–29 (390–1400) |
14 (754) 11–29 (110–570) |
16 (611) 11–29 (390–1400) |
| CD4 + CD45RO+ [%(/mm3)] |
43 (430) 8–42 (240–700) |
20 (1000) 8–42 (240–700) |
11 (594) 8–42 (240–700) |
2 (52) 8–42 (220–660) |
26 (1401) 8–42 (240–700) |
31 (1184) 8–42 (220–660) |
|
| CD4 + CD45RA+ [%(/mm3)] |
32 (320) 20–41 (230–770) |
13 (650) 20–41 (430–1500) |
3 (162) 20–41 (230–770) |
8 (208) 20–41 (430–1500) |
20 (1078) 20–41 (230–770) |
13 (497) 20–41 (430–1500) |
|
| CD4 + CD45RA+CD31+ (Trec) (%) | 24 | 21 | 18 | 19 | 40 | 11 | |
| DNT | 0.6 | > 2.5 | 3.8 | 1 | 3.5 | 1.98 | 5.3 |
| Lymphocyte activation (PHA) | |||||||
| CD3 + CD25+ (%) | 78 | 24 | 80 | 83 | 89 | 91 | 8 |
| CD3 + CD69+ (%) | 76 | 20 | 82 | 41 | 88 | 93 | 16 |
| Lymphocyte activation (anti-CD3) | |||||||
| CD4 + CD25+ (%) | 57 | 20 | 38 | 49 | 50 | 81 | 9 |
| CD4 + CD69+ (%) | 51 | 72 | 41 | 19 | 52 | 73 | 12 |
| B cell subgroups | |||||||
| CD19 + IgM-27 + IgD+ (switched memory) (%) | ND | ND | ND | 12 | 6.7 | 2.2 | 0.7 |
| CD19 + IgM + 27 + IgD+ (marginal zone) (%) | 9.8 | 26 | 7.4 | 2.4 | |||
| CD19+ IgM + 27- IgD+ (naive B) (%) | 86.3 | 70 | 84.3 | 90.5 | |||
| CD19 + CD38highCD21low (activated) (%) | 2.6 | 12.2 | 0.64 | 64.9 | |||
| CD19 + CD39highIgMhigh (transitional B) (%) | 6.1 | 0 | 0.4 | 3.3 | |||