A Novel Mutation in the Pyrin Domain of the NOD-like Receptor Family Pyrin Domain Containing Protein 3 in Muckle-Wells Syndrome.

Chin Med J (Engl) · 2017 · PMC5339933 · PMID 28229991

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highly significantno p-value reported

Mutations in FLG gene encoding filaggrin are a highly significant risk factor for atopic dermatitis.[ 17 ] We analyzed FLG to investigate whether coexisting mutations may be responsible for the new phenotype, but detected no functionally significant mutations.

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