Article

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

2022-07-04

Abstract excerpt

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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Literature Corpus work: 08e8cd8d-cd05-58f8-b795-c727ac8bbdc7
DOI: 10.22541/au.165693782.22354349/v1

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