Absence of NLRP3 somatic mutations and VEXAS ‐related UBA1 mutations in a large cohort of patients with Schnitzler syndrome

Abstract excerpt

Schnitzler's syndrome (SchS) is an extremely rare systemic autoinflammatory disease (SAID) characterized by a late onset of urticarial rash, recurrent fever, bone pain, arthralgia, elevated acute-phase reactants, and a monoclonal gammopathy involving IgMκ chains (classical type) and rarely IgG (variant type). To date, about 300 cases have been reported worldwide.1 The diagnosis of SchS is currently based on a set...

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