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

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.

SUBMITTER: Al-Shaikh R 

PROVIDER: S-EPMC8888922 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature