Table 2 Results of immunological and other diagnostic tests in the included patients. A: Immunological screening tests
From: Primary immunodeficiency associated with chromosomal aberration – an ESID survey
Nr | NP | LP | ↓G | ↓A | ↓M | ↓IgG subclass | Lymphocyte subsets | Resp TV | Resp P | L function | G function | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | - | - | + | +* | - | na | ↑ aCD3, ↑ aCD3CD4 | ↓ | ↓ | na | na | |
2(a) | - | - | + | - | + | + | IgG1, IgG3 | ↓ aCD3, ↓ a smB | nl | nl | ↓ NK toxicity | Oxidative burst borderline ↓ |
In vitro lymphocyte proliferation: nl | ||||||||||||
3(a) | - | - | - | - | - | - | Borderline ↓ a smB | nl | nl | ↓ vitro lymphocyte proliferation decreased from 7 years on: SEA | Moderate ↓ oxidative burst | |
4 | - | - | - | + | - | na | na | na | nl | na | na | |
5 | - | - | + | +* | + | + | IgG1, IgG2, IgG3 | Absence of CD19 cells | na | na | In vitro lymphocyte proliferation: nl | na |
6 | - | - | - | +* | - | - | ↑ aCD3, ↑ aCD3CD4, ↑ aCD19 | nl | nl | na | nl | |
7 | - | - | - | +* | - | na | ↓ aCD3, ↓ aCD3CD8 ↓ aCD19 | ↓ | na | na | na | |
8 | - | - | + | +* | - | na | nl | na | na | na | na | |
9 | - | - | - | - | - | - | ↑ aCD16/56 | ↓ | na | nl | na | |
10 | - | - | - | - | - | na | ↑ aCD3, ↑ aCD19, ↑ aCD16/56 | nl | na | Thymic function: nl | na | |
11 | - | - | + | - | - | na | ↓ aCD3CD8, ↓ aCD19, ↑ aCD16/56 | na | nl | na | nl | |
12 | - | - | + | + | - | na | ↑ aCD3, ↑ aCD3CD4, ↑ aCD19 | nl | na | na | na | |
13 | + | + | + | - | - | na | ↓ aCD3CD4, ↓ aCD19, ↓ aCD16/56, ↑ aCD3CD8 | na | na | na | na | |
14 | - | - | - | + | + | + | IgG2, IgG4 | nl | na | ↓(j) | na | na |
15(b) | - | - | - | - | + | - | nl | na | na | nl | nl | |
16(c) | - | - | + | + | - | + | IgG1, IgG2, IgG4 | ↓ aCD3, ↓ aCD3CD4, ↓ aCD19, ↓ aCD16/56 | na | na | na | na |
17(d) | - | - | - | +* | - | +** | IgG2, IgG4 | nl | na | na | na | na |
18(e) | - | - | + | - | - | + | IgG1, IgG2, IgG4 | ↓ aCD19, ↓ aCD16/56 | na | na | na | na |
19(e) | - | - | + | +* | - | + | IgG1 | na | na | na | na | na |
20(d) | - | - | - | +* | - | + | IgG4 | ↓ aCD16/56 | na | na | na | na |
21 | - | - | - | - | - | + | IgG3, IgG4 | ↓ aCD19 cells, slightly ↓ aMZ-like B, ↑ aCD3, ↑ aCD3CD8 | nl | nl | nl | na |
22 | - | + | + | + | + | - | ↓ aCD3, ↓ aCD3CD4, ↓ aCD3CD8, ↓aCD19 cells (BM) | nl | nl | na | na | |
23(f) | - | - | + | + | - | + | IgG1, IgG2, IgG4 | ↓ aCD3CD4, ↓ aCD16/56 | nl | nl(j) | ↓ In vitro lymphocyte proliferation: PHA = 85 %, PWD = 72 %, ConA = 39 % | na |
24(f) | - | - | + | +* | - | +*** | IgG2, IgG3, IgG4 | ↓ aCD3CD8 | nl | nl(j) | ↓ In vitro lymphocyte proliferation: PHA = 92 %, PWD = 87 %, ConA = 28 % | na |
25(g) | - | - | + | + | + | na | na | nl | ↓ | ↓ In vitro lymphocyte proliferation: PHA | na | |
26 | - | - | + | - | + | + | IgG1, IgG3 | na | na | ↓ | na | na |
27 | - | - | - | - | - | - | ↓ aCD3, ↓ aCD3CD4, ↓ aCD3CD8, ↓ aCD19, ↓ aCD16/56 | ↓ | ↓ | ↓ In vitro lymphocyte proliferation: PHA | na | |
28 | - | - | - | + | + | na | ↑ aCD3, ↑ aCD3CD4, ↑ aCD3CD8, ↑ aCD19 | nl | nl | na | nl | |
29 | - | - | - | - | - | - | ↑ aCD3CD8, ↑ aCD19 | nl | ↓ | na | nl | |
30 | - | - | - | - | + | na | ↓ aCD3, ↓ aCD3CD8 cells, ↑ aCD19 | nl | ↓ | na | nl | |
31(h) | - | - | - | + | - | + | IgG2 | ↑ aCD3, ↑ aCD3CD4, ↑ aCD3CD8, ↑ aCD19 | nl | ↓ | na | nl |
32 | - | - | - | + | + | na | ↑ aCD19 | nl | nl | na | nl | |
33 | - | - | - | - | - | + | IgG1 | na | na | nl | na | na |
34 | - | - | - | - | - | - | nl | na | ↓ | na | nl | |
35 | - | - | - | + | - | + | IgG2 | nl | na | ↓ | na | na |
36 | - | - | + | + | - | na | na | na | na | na | na | |
37 | - | - | + | + | + | + | IgG1, IgG2 | ↓ aCD3, ↓ aCD3CD8, ↓ aCD19, ↓ aCD16/56 cells, ↓ a memB | na | na | na | na |
38(i) | - | - | + | - | - | na | na | na | ↓ | na | na | |
39(i) | - | - | na | na | na | na | ↑ aCD3CD4 | na | ↓ | na | na | |
40(i) | - | - | - | - | - | na | ↑ aCD3, ↑ aCD3CD4 | na | ↓ | na | na | |
41(i) | - | - | - | - | - | na | na | na | ↓ | na | na | |
42(i) | - | - | - | - | - | - | ↑ aCD3, ↑ aCD3CD4, ↑ aCD19, ↑ aCD16/56 | na | ↓ | na | na | |
43 | - | - | + | + | - | + | IgG2 | ↑ aCD3, ↑ aCD3CD4, ↑ aCD3CD8, ↑ aCD 19 | nl | ↓ | na | na |
44 | - | - | - | - | - | + | IgG1 | na | na | na | na | na |
45 | - | - | - | + | - | - | na | na | na | na | na | |
46 | - | - | + | + | + | na | nl | na | na | na | na | |