Clinical symptoms and molecular investigations in 13 patients with Schnitzler syndrome identified at the single UK centre
نویسندگان
چکیده
Results The median age at disease onset was 55 years (range 3578). All patients presented with uricarial rash, other manifestations included fever (77%), arthralgia (69%), weight loss (46%), fatigue (38%), bone pain (38%) and lymphadenopathy (23%). One patient was diagnosed with AA amyloidosis. In all subjects low grade IgM kappa paraprotein had been detected. Genetic testing revealed two patients had V198M and F402L variants in the NLRP3 and NLRP12 genes respectively. No additional nucleotide alternations, including somatic mosaicism, in the NLRP3 exons: 3, 4 and 6 have been identified by MPS. In addition no mutation was found in MYD88 gene by PCR/Sanger sequencing.
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