ena-STUDY-Hannover Medical School-23-07-2021-08:56:11:931-618
Genetic background of immunodeficiency in patients with CVID and cancer
A total of 27 from 219 patients with CVID were diagnosed with at least one type of cancer. Those were subjected to genetic testing by means of targeted next-generation sequencing (tNGS) to identify the genetic background of immunodeficiency. A male with B-NHL, who harbored a monoallelic variant in NFKB1 (c.904dupT; p. S302Ffs*7) has been already reported by Schröder et al. (doi: 10.3389/fimmu.2019.02618). Further, by means of tNGS we identified a novel CTLA-4 variant (c.118G>A; p. V40M), in a female with HPV-associated cervical cancer. Considering allele frequency as well as the CADD and SIFT values of each identified variant, we found 2 predicted pathogenic monoallelic variants in TNFRSF13B in two additional studied patients.  Overall, only 3 out of 27 patients harbored pathogenic or predicted pathogenic variants.
A total of 27 from 219 patients with CVID were diagnosed with at least one type of cancer. Those were subjected to genetic testing by means of targeted next-generation sequencing (tNGS) to identify the genetic background of immunodeficiency. A male with B-NHL, who harbored a monoallelic variant in NFKB1 (c.904dupT; p. S302Ffs*7) has been already reported by Schröder et al. (doi: 10.3389/fimmu.2019.02618). Further, by means of tNGS we identified a novel CTLA-4 variant (c.118G>A; p. V40M), in a female with HPV-associated cervical cancer. Considering allele frequency as well as the CADD and SIFT values of each identified variant, we found 2 predicted pathogenic monoallelic variants in TNFRSF13B in two additional studied patients.  Overall, only 3 out of 27 patients harbored pathogenic or predicted pathogenic variants.