Key Clinical Message:
Here we report on a challenging diagnosis of a VIAHS patient who
presented with atypical clinical features of perianal abscess with
fistula formation, fever, aphthous ulcers, bicytopenia, and hematochezia
at a very early age of disease onset. This case highlights the
consideration of ADA2 deficiency as a differential diagnosis of enlarging
cutaneous abscess with no evidence of wound healing in the setting of
leukopenia and neutropenia.