Cargando…
Deficiency of adenosine deaminase 2: a challenging differential diagnosis of polyarteritis nodosa
Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disorder that was first described in 2014. It is a monogenic disease that is caused by loss-of-function variants in the ADA2 gene. Deficiency of adenosine deaminase 2 involves small- and medium-sized vessels and its clinical prese...
Autores principales: | , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Narodowy Instytut Geriatrii, Reumatologii i Rehabilitacji w Warszawie
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10044036/ https://www.ncbi.nlm.nih.gov/pubmed/36998575 http://dx.doi.org/10.5114/reum.2023.124878 |
_version_ | 1784913274920239104 |
---|---|
author | Hassanzadeh, Shakiba Bahadoram, Mohammad Mowla, Karim |
author_facet | Hassanzadeh, Shakiba Bahadoram, Mohammad Mowla, Karim |
author_sort | Hassanzadeh, Shakiba |
collection | PubMed |
description | Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disorder that was first described in 2014. It is a monogenic disease that is caused by loss-of-function variants in the ADA2 gene. Deficiency of adenosine deaminase 2 involves small- and medium-sized vessels and its clinical presentations include polyarteritis nodosa (PAN)-like features such as livedoid rash, early-onset stroke, hypogammaglobulinemia, hematological abnormalities, and systemic inflammation. Early diagnosis and treatment of DADA2 are crucial as the clinical features could be potentially life-threatening but might be treatable. The first-line treatment of choice in DADA2 is tumor necrosis factor α inhibitors. We aimed to provide an overview of the known pathophysiology, clinical presentations, diagnosis, and treatment of DADA2. A clearer knowledge of DADA2 may help to better diagnose, manage, and improve the clinical outcome of DADA2 patients. However, further studies are required to investigate the genotype-phenotype associations and exact pathophysiology of DADA2. |
format | Online Article Text |
id | pubmed-10044036 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Narodowy Instytut Geriatrii, Reumatologii i Rehabilitacji w Warszawie |
record_format | MEDLINE/PubMed |
spelling | pubmed-100440362023-03-29 Deficiency of adenosine deaminase 2: a challenging differential diagnosis of polyarteritis nodosa Hassanzadeh, Shakiba Bahadoram, Mohammad Mowla, Karim Reumatologia Review Paper Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disorder that was first described in 2014. It is a monogenic disease that is caused by loss-of-function variants in the ADA2 gene. Deficiency of adenosine deaminase 2 involves small- and medium-sized vessels and its clinical presentations include polyarteritis nodosa (PAN)-like features such as livedoid rash, early-onset stroke, hypogammaglobulinemia, hematological abnormalities, and systemic inflammation. Early diagnosis and treatment of DADA2 are crucial as the clinical features could be potentially life-threatening but might be treatable. The first-line treatment of choice in DADA2 is tumor necrosis factor α inhibitors. We aimed to provide an overview of the known pathophysiology, clinical presentations, diagnosis, and treatment of DADA2. A clearer knowledge of DADA2 may help to better diagnose, manage, and improve the clinical outcome of DADA2 patients. However, further studies are required to investigate the genotype-phenotype associations and exact pathophysiology of DADA2. Narodowy Instytut Geriatrii, Reumatologii i Rehabilitacji w Warszawie 2023-03-08 2023 /pmc/articles/PMC10044036/ /pubmed/36998575 http://dx.doi.org/10.5114/reum.2023.124878 Text en Copyright: © 2023 Narodowy Instytut Geriatrii, Reumatologii i Rehabilitacji w Warszawie https://creativecommons.org/licenses/by-nc-sa/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) License, allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license. |
spellingShingle | Review Paper Hassanzadeh, Shakiba Bahadoram, Mohammad Mowla, Karim Deficiency of adenosine deaminase 2: a challenging differential diagnosis of polyarteritis nodosa |
title | Deficiency of adenosine deaminase 2: a challenging differential diagnosis of polyarteritis nodosa |
title_full | Deficiency of adenosine deaminase 2: a challenging differential diagnosis of polyarteritis nodosa |
title_fullStr | Deficiency of adenosine deaminase 2: a challenging differential diagnosis of polyarteritis nodosa |
title_full_unstemmed | Deficiency of adenosine deaminase 2: a challenging differential diagnosis of polyarteritis nodosa |
title_short | Deficiency of adenosine deaminase 2: a challenging differential diagnosis of polyarteritis nodosa |
title_sort | deficiency of adenosine deaminase 2: a challenging differential diagnosis of polyarteritis nodosa |
topic | Review Paper |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10044036/ https://www.ncbi.nlm.nih.gov/pubmed/36998575 http://dx.doi.org/10.5114/reum.2023.124878 |
work_keys_str_mv | AT hassanzadehshakiba deficiencyofadenosinedeaminase2achallengingdifferentialdiagnosisofpolyarteritisnodosa AT bahadorammohammad deficiencyofadenosinedeaminase2achallengingdifferentialdiagnosisofpolyarteritisnodosa AT mowlakarim deficiencyofadenosinedeaminase2achallengingdifferentialdiagnosisofpolyarteritisnodosa |