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

Abstract

Abstract 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