PIK3R1 and Epstein-Barr virus infection: Patient-094 presented an intragenic duplication of PSTPIP1 and notably this patient carried a pathogenic gain-of-function variant in PIK3R1 (MIM 616,005#0008), which is highly likely to contribute to the clinical features observed in this patient, including splenomegaly, severe EBV infection, and expansion of transitional B cells.