Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes

Figure 1

Distribution of TNFRSF13B mutations across the TACI protein in 21 of 189 patients with CVID (a) and in 9 of 67 patients with IgAD (b). Each symbol represents one patient. ● indicates patients with homozygous TNFRSF13B mutations; ∘ represents patients with heterozygous TNFRSF13B mutations. Compound heterozygous mutated TACI-deficient patients are labeled as indicated in the figure. CRD1 and CRD2 indicate cysteine-rich domains (residues 32–68 and 69–107); TM, transmembrane domain (residues 160–182).

(a)

(b)