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...

Descripción completa

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:
Case Reports
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
_version_ 1784661268989214720
author Al‐shaikh, Reem
Alnowaiser, Dimah
Peer‐Zada, Abdul Ali
Almutairi, Awatif
Alghamdi, Hamza
author_facet Al‐shaikh, Reem
Alnowaiser, Dimah
Peer‐Zada, Abdul Ali
Almutairi, Awatif
Alghamdi, Hamza
author_sort Al‐shaikh, Reem
collection PubMed
description 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.
format Online
Article
Text
id pubmed-8888922
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher John Wiley and Sons Inc.
record_format MEDLINE/PubMed
spelling pubmed-88889222022-03-07 Atypical presentation of adenosine deaminase 2 deficiency with bi‐allelic ADA2 mutation Al‐shaikh, Reem Alnowaiser, Dimah Peer‐Zada, Abdul Ali Almutairi, Awatif Alghamdi, Hamza Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2022-03-01 /pmc/articles/PMC8888922/ /pubmed/35261770 http://dx.doi.org/10.1002/ccr3.5408 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Al‐shaikh, Reem
Alnowaiser, Dimah
Peer‐Zada, Abdul Ali
Almutairi, Awatif
Alghamdi, Hamza
Atypical presentation of adenosine deaminase 2 deficiency with bi‐allelic ADA2 mutation
title Atypical presentation of adenosine deaminase 2 deficiency with bi‐allelic ADA2 mutation
title_full Atypical presentation of adenosine deaminase 2 deficiency with bi‐allelic ADA2 mutation
title_fullStr Atypical presentation of adenosine deaminase 2 deficiency with bi‐allelic ADA2 mutation
title_full_unstemmed Atypical presentation of adenosine deaminase 2 deficiency with bi‐allelic ADA2 mutation
title_short Atypical presentation of adenosine deaminase 2 deficiency with bi‐allelic ADA2 mutation
title_sort atypical presentation of adenosine deaminase 2 deficiency with bi‐allelic ada2 mutation
topic Case Reports
url 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
work_keys_str_mv AT alshaikhreem atypicalpresentationofadenosinedeaminase2deficiencywithbiallelicada2mutation
AT alnowaiserdimah atypicalpresentationofadenosinedeaminase2deficiencywithbiallelicada2mutation
AT peerzadaabdulali atypicalpresentationofadenosinedeaminase2deficiencywithbiallelicada2mutation
AT almutairiawatif atypicalpresentationofadenosinedeaminase2deficiencywithbiallelicada2mutation
AT alghamdihamza atypicalpresentationofadenosinedeaminase2deficiencywithbiallelicada2mutation

Ejemplares similares