Yeditepe University School of Medicine, Istanbul, Turkey.
Faculty of Engineering and Natural Sciences, Molecular Biology and Genetics, Acıbadem University, Istanbul, Turkey.
Mod Rheumatol Case Rep. 2023 Dec 29;8(1):121-124. doi: 10.1093/mrcr/rxad045.
Deficiency of adenosine deaminase 2 (DADA2), caused by recessive mutations in the adenosine deaminase 2 (ADA2) gene, results in cutaneous or systemic vasculitis with variable clinical manifestations. There is only one other case in literature carrying both ADA2 and MEFV gene pathogenic variants. Here we report the second case that carries both ADA2 and MEFV pathogenic variants, presenting with characteristic phenotypes of both familial Mediterranean fever (FMF) and DADA2. A male patient, currently 29 years old, was initially diagnosed with FMF and developed livedo reticularis and nodular dermal lesions compatible with cutaneous polyarteritis nodosa (PAN) a year after diagnosis. His family history revealed a brother 2 years older than himself who was diagnosed with PAN and died at age 22 because of gut perforation secondary to acute mesenteric ischaemia. ADA2 gene mutation analysis on chromosome 22q11.1 was positive, and the patient responded to colchicine and infliximab.
腺苷脱氨酶 2（ADA2）基因的隐性突变导致 ADA2 缺乏症，引起皮肤或系统性血管炎，临床表现多样。文献中仅有另一个携带 ADA2 和 MEFV 基因致病性变异的病例。在这里，我们报告了第二个携带 ADA2 和 MEFV 致病性变异的病例，表现出家族性地中海热（FMF）和 DADA2 的特征表型。一名 29 岁男性患者最初被诊断为 FMF，诊断后一年出现网状青斑和结节性真皮病变，符合皮肤多发性动脉炎（PAN）。他的家族史显示，他有一个年长他 2 岁的哥哥，被诊断为 PAN，并因急性肠系膜缺血继发的肠穿孔而在 22 岁时死亡。对染色体 22q11.1 的 ADA2 基因突变分析呈阳性，患者对秋水仙碱和英夫利昔单抗有反应。
