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Article

Phenotypic analysis of pyrin-associated autoinflammation with neutrophilic dermatosis patients during treatment.

Rheumatology (Oxford, England) - 3 Nov 2021

Van Nieuwenhove Erika, De Langhe Ellen, Dooley James, Van Den Oord Joost, Shahrooei Mohammad, Parvaneh Nima, Ziaee Vahid, Savic Sinisa, Kacar Mark, Bossuyt Xavier, Humblet-Baron Stephanie, Liston Adrian, Wouters Carine

Abstract excerpt

OBJECTIVE: In 2016 specific heterozygous gain-of-function mutations in the Mediterranean fever gene MEFV were reported as causal for a distinct autoinflammatory disease coined pyrin-associated autoinflammation with neutrophilic dermatosis (PAAND). We sought to provide an extended report on clinical manifestations in PAAND patients to date and evaluate the efficacy and safety of treatment with the IL-1-blocking...

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Identifiers

PMID: 33693560
DOI: 10.1093/rheumatology/keab221

Genes

MEFV
TNF

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