Article

Atypical Presentation of Adenosine Deaminase Deficiency ADA2 Deficiency

2021-12-23

Abstract excerpt

Here we report on a challenging diagnosis of VIAHS in a patient who presented at a very early age with a perianal abscess with fistula formation, fever, aphthous ulcers, bicytopenia, and hematochezia. Marked phenotypic variability can occur, and screening for families should be initiated in those with ADA2 mutation.

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Literature Corpus work: f01d9dae-e5f8-5b44-8af1-642f61e6c2a6
DOI: 10.22541/au.164028045.56168269/v1

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