Representation of genetic diagnoses of known IEI/PID in the ESID -R . (A, upper panel) The number and proportion of patients with a genetic versus those without a genetic diagnosis is shown in descending order. (B, lower panel) The top 5 genetic defects or deletions registered in the ESID-R per all 10 IUIS categories of IEI are presented; the nomenclature in registry diagnosis and gene fields was not regularly updated/changed, showing, e.g., GP91-phox instead of CYBB and p47-phox instead of NCF1.