Hassanzadeh Shakiba, Bahadoram Mohammad, Mowla Karim
Thalassemia and Hemoglobinopathy Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Iran.
Department of Rheumatology, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Iran.
Reumatologia. 2023;61(1):45-54. doi: 10.5114/reum.2023.124878. Epub 2023 Mar 8.
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 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.
腺苷脱氨酶2（DADA2）缺乏症是一种常染色体隐性疾病，于2014年首次被描述。它是一种单基因疾病，由该基因的功能丧失变异引起。腺苷脱氨酶2缺乏涉及中小血管，其临床表现包括结节性多动脉炎（PAN）样特征，如类脂质渐进性坏死性皮疹、早发性中风、低丙种球蛋白血症、血液学异常和全身炎症。由于DADA2的临床特征可能危及生命但可能可治，因此早期诊断和治疗至关重要。DADA2的一线治疗选择是肿瘤坏死因子α抑制剂。我们旨在概述DADA2已知的病理生理学、临床表现、诊断和治疗。对DADA2更清晰的认识可能有助于更好地诊断、管理DADA2患者并改善其临床结局。然而，需要进一步研究来调查DADA2的基因型-表型关联和确切病理生理学。
