Herein, we report a case of VAIHS with atypical clinical presentation of perianal abscess, fistula fever and bicytopenia including pathogenic ADA2 mutation suggesting that ADA2 deficiency be considered as a differential diagnosis of enlarging cutaneous abscess with no evidence of wound healing in the setting of leukopenia and neutropenia.

Here we report on a challenging diagnosis of VIAHS in a patient who presented at a very early age with a perianal abscess with fistula formation, fever, aphthous ulcers, bicytopenia, and hematochezia. Marked phenotypic variability can occur, and screening for families should be initiated in those with ADA2 mutation.