Figure 1.

The BTK gene of case 1 has c.1921c > t mutation; the BTK gene of case 2 has c.906-908del splicing site mutation; the BTK gene of case 3 has c.718delg mutation; the cybb gene of case 4 has c.469c > t mutation; the IL2RG gene of case 5 has c.202g > a mutation; the STAT1 gene of case 7 has c.1154c > t mutation. The arrow shows the mutation site. The STAT1 gene of case 6 had c.854a > G mutation, and the sequencing map was not obtained (the parents only provided the report sheet, and the sequencing map was lost).