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A case with febrile attacks and vasculopathy associated with ADA2 and MEFV pathogenic variants.
Modern rheumatology case reports. 2023 August 6
Deficiency of adenosine deaminase 2 (DADA2), caused by recessive mutations in the 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 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 PAN a year after diagnosis. His family history revealed a brother two years older than himself who was diagnosed with PAN and died at age 22 because of gut perforation secondary to acute mesenteric ischemia. ADA2 gene mutation analysis on chromosome 22q11.1 was positive, and the patient responded to colchicine and infliximab.
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