An unusual phenotype in Muckle-Wells syndrome associated with NLRP3 E311K.
Cryopyrin-Associated Periodic Syndromes
Interleukin 1 Receptor Antagonist Protein
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CitationAn unusual phenotype in Muckle-Wells syndrome associated with NLRP3 E311K. 2011, 50 (2):419-20 Rheumatology (Oxford)
JournalRheumatology (Oxford, England)
- NLRP3 E311K mutation in a large family with Muckle-Wells syndrome--description of a heterogeneous phenotype and response to treatment.
- Authors: Kuemmerle-Deschner JB, Lohse P, Koetter I, Dannecker GE, Reess F, Ummenhofer K, Koch S, Tzaribachev N, Bialkowski A, Benseler SM
- Issue date: 2011
- Muckle-Wells treatment with anakinra.
- Authors: Eungdamrong J, Boyd KP, Meehan SA, Latkowski JA
- Issue date: 2013 Dec 16
- Muckle-Wells syndrome without mutation in exon 3 of the NLRP3 gene, identified by evidence of excessive monocyte production of functional interleukin 1β and rapid response to anakinra.
- Authors: Sabroe RA, Stokes CA, Parker LC, Higgins K, Prince LR, Sabroe I
- Issue date: 2013 Dec
- [Muckle-Wells syndrome caused by a new cryopyrin mutation: effective treatment with interleukin-1 antagonist].
- Authors: Rameev VV, Kozlovskaia LV, Bogdanova MV
- Issue date: 2012
- Muckle-Wells syndrome: manifestations and diagnosis in four generations of a Portuguese family.
- Authors: Azevedo SRL, Peixoto DFM
- Issue date: 2020 Oct