Article
A case with febrile attacks and vasculopathy associated with ADA2 and MEFV pathogenic variants.
Modern rheumatology case reports - 29 Dec 2023
Parlar Kerem, Tahir Turanli Eda, Nuhoglu Kantarci Eda, Hacioglu Aysa, Kirectepe Aydin Asli, Ayla Ali Yagiz, Voyvoda Umut, Ozdogan Huri, Ugurlu Serdal
Abstract excerpt
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...
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