Analysis on misdiagnosis of a case of novel variant of NLRP12.

We had read with great interest the paper about undefined systemic autoinflammatory diseases (SAIDs) by Ter Haar et al .1 We noticed heterogeneity of presentation in SAIDs, is difficult to diagnose, and there are no standard medications for the treatment. Here, we report a case with novel variant in NLRP12 was misdiagnosed as refractory systemic-onset juvenile idiopathic arthritis (sJIA) for 2 years.\n\nA 9-year-old girl presented with arthralgia for 2 months and skin rash on her trunk and fever for 10 days, despite antibiotic therapy. The affected joints were both knees and wrists. She was admitted to our department for an initial evaluation in June 2016. Laboratory investigations include the blood count (white blood count (WBC) 9.03×10∧9/L, platelet count (PLT) 508×10∧9/L), inflammatory parameters (high C-reactive protein (CRP) 117.7 mg/L, erythrocyte sedimentation rate (ESR) 108 mm/hour, serum ferritin 628.6 ug/L, interleukin-6 (IL-6) 325.3 pg/L). Serum creatinine, transaminase and procalcitonin …