Atypical Presentation of Adenosine Deaminase-2 Deficiency with Bi-allelic ADA2 Mutation
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Abstract
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.
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- europepmc
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