Atypical presentation of adenosine deaminase 2 deficiency with bi-allelic ADA2 mutation

Herein, we report a case of VAIHS with atypical clinical presentation of perianal abscess, fistula fever, and bi-cytopenia 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.