Open AccessAtypical presentation of adenosine deaminase 2 deficiency with bi‐allelic ADA2 mutation
Author(s) -
Alshaikh Reem,
Alnowaiser Dimah,
PeerZada Abdul Ali,
Almutairi Awatif,
Alghamdi Hamza
Publication year - 2022
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.5408
Subject(s) - medicine , neutropenia , cytopenia , presentation (obstetrics) , adenosine deaminase , leukopenia , abscess , differential diagnosis , mutation , sepsis , immunology , pathology , surgery , genetics , gene , adenosine , chemotherapy , biology , bone marrow
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.