Molecular analysis
In 9/47 patients, diagnosed as CVID, we performed genetic analysis as previously described: in 3/9 patients we did not identified any pathogenic variants or variants of uncertain significance (VUS); in 6/9 patients we found the variants summarized in Table 1-A.
Most of the variants are classified as VUS, with the exception of CR2:c.826delT classified as pathogenic, PRF1:c.272C>A and TNFRSF13B:c.260T>A classified as likely pathogenic.
We found that 2/6 patients carried TNFRSF13B variants coding for TACI receptor, showing respectively the monoallelic variant p.Ile87Asn and the compound heterozygous variants p.Ser144Ter and p.Cys193Arg.
3/47 patients, diagnosed as ALPS Type IA, carried pathogenic variants in the TNFRSF6 gene, coding for FAS receptor (Table 1-B). The patient affected by DiGeorge syndrome showed a 2 Mb deletion on chromosome 22 from CLTCL-1 gene to LRZTR1 gene.