FIGURE 1.

Genetic workflow displaying step-by-step diagnostic strategy. First, WES data from all patients were screened using virtual vPANEL_1 (13 genes); in case of non-confirmatory findings, virtual vPANEL_2 was analyzed (542 genes). In a third step, WES data (WES_3) were filtered to detect the most likely deleterious variants highly suspicious for AID. Additionally, HPO terms were used according to the patient’s phenotype. If applicable, trio WES were performed; PV = pathogenic, or LPV = likely pathogenic variant found through genetic diagnostics.