Expanding the phenotype of CIAS1 related autoinflammatory syndrome

Dominant mutations in the CIAS1 gene cause a spectrum of autoinflammatory diseases such as CINCA (chronic, infantile, neurologic, cutaneous, articular) syndrome, Muckle-Wells syndrome (MWS), and familial cold autoinflammatory syndrome (FCAS) which is characterized by episodes of urticaria, arthralgia, fever, and conjunctivitis after generalized exposure to cold. We here describe patients of two German families with the 592G→A, V198M mutation within the CIAS1 gene, which has been described to induce FCAS before. However, in our patients the clinical phenotype was very different from this disease. They never had u…