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

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...

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Detalles Bibliográficos
Autores principales: Al‐shaikh, Reem, Alnowaiser, Dimah, Peer‐Zada, Abdul Ali, Almutairi, Awatif, Alghamdi, Hamza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8888922/
https://www.ncbi.nlm.nih.gov/pubmed/35261770
http://dx.doi.org/10.1002/ccr3.5408