Table 1 Lymphocyte studies in haploinsufficient individuals a
CD3 GENOTYPE | γ+/− | δ+/− | δ+/leaky | Normal adults |
|---|---|---|---|---|
Number of subjects | 4 | 2 | 2 | 12 |
Ages | 46 ± 10 | 44 | 33 ± 1 | 37 ± 12 |
LYMPHOCYTE IMMUNOPHENOTYPE (%) | Mean (range) | |||
T (CD3+) | 60 ± 6 | 66 ± 1 | 62 ± 5 | 71 (54–77) |
T (CD3+CD4+) | 45 ± 4 | 39 ± 5 | 26 ± 1 | 43 (30–53) |
T (CD3+CD8+) | 18 ± 1 | 26 ± 6 | 16 ± 7 | 32 (16–39) |
B (CD19+) | 18 ± 5 | 12 ± 2 | ND | 12 (6–19) |
NK (CD3−CD16+/CD56+) | 17 ± 3 | 17 ± 2 | 9 ± 6 | 15 (8–31) |
LYMPHOCYTE FUNCTION | ||||
T cell proliferation (% of control max)b | Normal control | |||
Medium | 3 ± 1 | 1 | 8 ± 2 | 4 ± 3 |
Anti-CD3 (UCHT-1) | 74 ± 4 | ND | 84 ± 6 | 100 |
Phytohemagglutinin (PHA) | 61 ± 5 | 60 ± 4 | ND | 100 |
Serum Ig (mg/dl) | ND | ND | Mean (range) | |
IgG | 790 ± 319 | 1158 (644–1436) | ||
IgA | 306 ± 54 | 200 (65–348) | ||
IgM | 47 ± 29 | 99 (55–206) | ||
IgG1 | 611 ± 37 | 840 (380–1000) | ||
IgG2 | 165 ± 222 | 240 (90–500) | ||
IgG3 | 30 ± 6 | 80 (15–150) | ||
IgG4 | 9 ± 6 | 40 (3–210) | ||
NK cell cytotoxicity (% lysis) | 52 ± 6 | 80 ± 5 | ND | 31 (21–41) |