Cryopyrin-associated periodic syndromes (CAPS): report on two cases (Muckle-Wells syndrome (MWS) and CINCA/NOMID)

Background Cryopyrin-associated periodic syndromes (CAPS) are the rare hereditary autoinflammatory diseases. CAPS include three similar conditions are distinguished which lie along a phenotypical continuum with increasing levels of severity: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and CINCA/NOMID. Distinguishing features include cutaneous, neurological, ophthalmologic and rheumatologic manifestations. CAPS results from a gain-of-function mutation of the NLRP3 gene (CIAS1) coding for cryopyrin. There is no production of autoantibodies, but interleukin-1 plays an important role and acute-phase reactants show abnormalities. Our aim was to report on two cases of CAPS that are considered to be rare entities.