A family case of a rare autoinflammatory disease associated with mutations in the NLRP3 and TNFRSF1A genes in the practice of a rheumatologist

The article presents a clinical case of rare autoinflammatory disease – family Muckle Wells syndrome. diversity manifestations and the impossibility confirming diagnosis without genetic study by DNA sequencing determine complexity delay in diagnosis. development severe complications and, as consequence, fatal outcome necessitates early described demonstrates importance for timely disease, features course, familial nature disease. Mackle syndrome young members before will allow to start adequate treatment prevent amyloidosis.