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.
Keywords: ADA2; autoinflammation; autosomal recessive vasculitis; hematologic defects syndrome; immunodeficiency.
© 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.