Various inflammatory phenotypes in V200M NLRP3 carriers

Abstract

Background Cryopyrin-associated periodic syndrome (CAPS) is a very rare auto-inflammatory syndrome. CAPS is caused by mutations of the NLRP3 gene that encodes crypopyrin protein that is a part of inflammasome complex. CAPS patients can present with different phenotypes of the disease Familial cold urticaria, Muckle-Wells syndrome, and the most severe phenotype neonatal onset multisystem inflammatory disease (NOMID). CAPS patients experience symptoms of systemic inflammation, intense fatigue and have poor quality of life. In the most severe forms, they may develop serious organ damage such as visual and hearing impairment, arthritis, neurological deterioration and renal insufficiency. However, V200M mutation has been associated with mild inflammatory phenotype and its pathogenic role is even questioned by some. We report two families of V200M mutation carriers, with variable inflammatory phenotypes. In all cases mutations of MEFV, MVK, TNFRSF1A genes were excluded.