Atypical presentation of adenosine deaminase 2 deficiency with bi‐allelic ADA2 mutation
oleh: Reem Al‐shaikh, Dimah Alnowaiser, Abdul Ali Peer‐Zada, Awatif Almutairi, Hamza Alghamdi
| Format: | Article |
|---|---|
| Diterbitkan: | Wiley 2022-03-01 |
Deskripsi
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.