The clinical phenotype of Israeli patients with Q703K mutation in the NLRP3 gene

Results Seven female and 3 male patients with a mean age of 22.5±17.8 years and a mean diagnosis delay of 12.4 years were identified. Their clinical characteristics ranged from self resolving attacks of fever, urticaria and arthralgia to a chronic, debilitating steroid-dependent inflammatory disease. Splenomegaly, transfusion-dependent anemia, sensory neuropathy and pericarditis, manifestations which are not included in the traditional CAPS-spectrum, were detected in some of the patients. The majority of patients responded to high dose steroid therapy. DMARDS such as methotrexate, azathioprine and colchicine were generally ineffective at reducing steroid dose or attack rate. Therapy with TNF inhibitors or anti IL-1 agents was instituted in 4 patients with a favorable response. All but one patient needed chronic anti-inflammatory therapy to prevent attacks and reduce steroid dose.