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Table 1 Lymphocyte studies in haploinsufficient individuals a

From: Human CD3γ, but not CD3δ, haploinsufficiency differentially impairs γδ versus αβ surface TCR expression

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 (CD3CD16+/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)
  1. aMean ± SD of the indicated number of different subjects. When available, multiple values from single donors were included as single means in the calculations. Data obtained from several sources, including published material [4,5].
  2. bPercentage proliferation (H3-thymidine uptake for γ+/− and δ+/−donors, CFSE dilution for δ+/leaky donors) referred to the maximum response of a healthy control in each experiment.
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