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- W4323663264 abstract "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." @default.
- W4323663264 created "2023-03-10" @default.
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- W4323663264 date "2023-03-08" @default.
- W4323663264 modified "2023-10-14" @default.
- W4323663264 title "Deficiency of adenosine deaminase 2: a challenging differential diagnosis of polyarteritis nodosa" @default.
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- W4323663264 doi "https://doi.org/10.5114/reum.2023.124878" @default.
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