In this study, the targeted panel sequencing approach has allowed us to identify mutations in patients with atypical clinical presentations, such as CARD9 mutations in patients with a clinical diagnosis of the hyper-IgE syndrome, STAT3 mutations in patients with chronic mucocutaneous candidiasis and patients with low HIES scores that may otherwise have been missed, or a WAS mutation in a patient with a typical HIES phenotype. Here, WAS is linked to chronic mucocutaneous candidiasis.