Atypical presentation of adenosine deaminase 2 deficiency with bi‐allelic ADA2 mutation

Atypical presentation of adenosine deaminase 2 deficiency with bi‐allelic ADA2 mutation

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 he...

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Bibliographic Details
Main Authors: Reem Al‐shaikh, Dimah Alnowaiser, Abdul Ali Peer‐Zada, Awatif Almutairi, Hamza Alghamdi
Format: Article
Language:English
Published: Wiley 2022-03-01
Series:Clinical Case Reports
Subjects:
ADA2
autoinflammation
autosomal recessive vasculitis
hematologic defects syndrome
immunodeficiency
Online Access:https://doi.org/10.1002/ccr3.5408

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