RUNX2 and Metaphyseal dysplasia: We also identified 11 variants of high quality, absent from the Genome Aggregation Database (gnomAD), occurring in autosomal dominant genes, and present in both siblings; none occurred in a PID gene, and only one occurred in a gene predicted to be potentially implicated in PID, but closer inspection revealed a mismatched disorder (RUNX2, Cleidocranial or metaphyseal dysplasia).