Case 1 Case 2 Case 3 Case 4
Age at evaluation 14 y 8 y 7 y 8y
Lymphocyte count/mm3 × 10-3 7.44 (1.40-3.30) 0.65 (1.90-3.70) 1.4 (1.90-3.70) 2.2 (1.90-3.70)
CD3pos cells/mm3 × 10-3 4.61 (1.00-2.20) 0.24 (1.20-2.6) 0.55 (1.20-2.6) 1.8 (1.20-2.6)
CD4pos cells/mm3 × 10-3 2.3 (0.53-1.30) 0.07 (0.65-1.50) 0.29 (0.65-1.50) 0.91 (0.65-1.50)
CD8pos cells/mm3 × 10-3 2.2 (0.33-0.92) 0.13 (0.37-1.10) 0.16 (0.37-1.10) 0.53 (0.37-1.10)
CD19pos cells/mm3 × 10-3 2.7 (0.11-0.57) 0.07 (0.27-0.86) 0.18 (0.27-0.86) 0.31 (0.27-0.86)
NK cells/mm3 × 10-3 0.22 (0.07-0.48) 0.29 (0.1-0.48) 0.30 (0.1-0.48) 0.07 (0.1-0.48)
CD4/CD8 ratio 1.0 0.54 1.5 1.7
Recent thymic emigrant cells mm3 × 10-3
CD31posCD45RAposCD4pos cells
ND 0.02 (0.05-0.93) ND ND
Naive CD4 cells   
CD45RAposCD45ROneg/CD4pos (%)
39 (44-73) 8 (44-73) 47 (44-73) 64 (44-73)
Memory CD4 T cells
CD45ROposCD45RAneg/CD4pos (%)
52 (12-42) 87 (12-42) 44 (12-42) 24 (12-42)
Naive CD8 cells
CCR7posCD45RAposCD27pos/CD8pos (%)
21 (20-95) 1 (16-100) 36 (16-100) 63 (16-100)
Memory CD8 T cells   
CCR7negCD45RAneg/CD8pos (%)
11 50 28 22   
TEMRA CD8 T cells 
CCR7negCD45RApos/CD8pos (%)
CD27 neg TEMRA (%)
68
53
43
12
35
4
12
1
CD57 on CD8 T cells (%) 50 (4-33) 36 (4-33) 6 (4-33) 6 (4-33)
HLA-DR on TCRαβ (%) 9 (1-4) 2 (1-4) 3 (1-4) 4 (1-4)
Memory B cells
CD27pos, IgDpos/CD19pos (%)
CD27pos, IgDneg/CD19 (%)
3 (5-18)
2 (4-23)

2 (2.9-19)
6 (3.9-16.5)

6 (2.9-19)
6 (3.9-16.5)

10 (2.9-19)
22 (3.9-16.5

Fraction of Somatic hypermutation (%) 25 (27-88) 43 (27-88) ND 45 (27-88)
T-cell proliferation (% among CD4)
PMA
Anti-CD3, Anti-CD2, Anti-CD28* 
49 (35-65)
94 (75-100)

24 (35-65)
18 (75-100)

24 (35-65)
86 (75-100)

67 (35-65)
94 (75-100)

Table 2: Immunologic features in patients.