Clinical and Molecular Phenotypes of Low ‐Penetrance Variants of NLRP3: Diagnostic and Therapeutic Challenges

ConclusionPatients with low‐penetrance NLRP3 variants display a distinct clinical phenotype and an intermediate biologic phenotype, including IL‐1β and non–IL‐1β–mediated inflammatory pathway activation.

Source: Arthritis and Rheumatism - October 17, 2017 Category: Rheumatology Authors: J. B. Kuemmerle ‐Deschner, D. Verma, T. Endres, L. Broderick, A. A. Jesus, F. Hofer, N. Blank, K. Krause, C. Rietschel, G. Horneff, I. Aksentijevich, P. Lohse, R. Goldbach‐Mansky, H. M. Hoffman, S. M. Benseler Tags: Brief Report Source Type: research