Synergy in B-Cell Activation between Toll-Like Receptor 9 and Transmembrane Activator and Calcium-Modulating Cyclophilin Ligand Interactor (TACI) in A181E/C104R Compound Heterozygous Siblings
Table 1
Immunological characteristics of patient and family.
Patient
Sibling 1
Sibling 2
Mother
Father
Gender
♀
♀
♀
♀
♂
Age (yrs)
11
16
14
43
43
TACI variant
C104R + A181E
C104R + A181E
C104R + A181E
A181E
C104R
Infections
Yes
Initially no, later yes
No
No
No
IgG
2.3 ↓
4.87 ↓
8.37
14.2
11.4
IgA
0.12 ↓
0.36 ↓
0.45 ↓
1.7
1.1
IgM
0.20 ↓
0.59 ↓
0.92
1.4
0.78
IgG1
1.5 ↓
3.3 ↓
5.7
9.8 ↑
7.6
IgG2
0.11 ↓
0.5 ↓
1.27
3.36
2.08
IgG3
1.66 ↑
0.52
0.54
1.00
0.87
IgG4
<0.07
0.04 ↓
0.18
0.05
0.24
Specific Ab titer after vaccination pneumococcal serotype
(IU/mL)
(g/mL)
(g/mL)
(g/mL)
(g/mL)
1
1.4
7.2
15
>40
3
1 ↓
1.2
6.1
7.0
2.6
4
2 ↓
0.46 ↓
6.2
0.89 ↓
1
5
4.0
0.34 ↓
2.4
6.9
6B
0.050 ↓
1.5
11
0.65 ↓
7F
1.7
19
1.2
15
9V
2 ↓
0.97 ↓
6.6
6.9
4.5
14
3.1
>40
11
39
18C
0.49 ↓
0.70 ↓
3.7
5.2
19F
0.48 ↓
>40
39
12
23F
1.8
1.4
23
11
Anti-Hib IgG
31
>100
>100
8.7
1.6
Numbers with ↑ indicate values ≥2 standard deviations (SD) above the references values; ↓ are numbers ≤2 SD age-related references values. ♀: female; ♂: male; Ab: antibody; Ig: immunoglobulin; TACI: transmembrane activator, calcium modulator, and cyclophilin ligand interactor; Hib: Haemophilus influenzae type B.
