Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes
Table 1
Frequencies, significance, and relative risk of TNFRSF13B mutations in 189 CVID (a) and in 67 IgAD (b) Italian patients compared with healthy controls.
(a) CVID
Patient subset ()
Genotype
(%)
Relative risk (95% CI)
All patients (189)
Any mutation
21 (11.1%)
<0.0001
8.5 (2.6–28.1)
Patients with biallelic mutations excluded (181)
Monoallelic mutations
13 (7.2%)
0.0034
5.5 (1.56–19.0)
Patients with biallelic and C104R mutations excluded (177)
Monoallelic mutations excluding C104R
9 (5.1%)
0.0061
11.6 (1.5–91.0)
Patients with monoallelic mutations excluded (176)
Biallelic mutations
8 (4.5%)
0.0012
21.9 (1.3–376.9)
Patients without mutations other than heterozygous C104R (172)
Heterozygous C104R
4 (2.3%)
0.4084
2.7 (0.5–14.4)
(b) IgAD
Patient subset ()
Genotype
(%)
Relative risk (95% CI)
All IgAD patients (67)
Any mutation
9 (13.4%)
0.0001
10.3 (2.9–37.0)
Patients without mutations other than heterozygous C104R (64)
Monoallelic mutations excluding C104R
6 (9.4%)
0.0005
21.4 (2.6–174.3)
Patients without mutations other than heterozygous C104R (61)
Heterozygous C104R
3 (4.9%)
0.0064
5.6 (1.0–33.0)
Two-tailed values calculated by Fisher’s exact test.
