Articles with "pyrin associated" as a keyword



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Phenotypical and Functional Characterization of Neutrophils in Two Pyrin-Associated Auto-inflammatory Diseases.

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Published in 2021 at "Journal of clinical immunology"

DOI: 10.1007/s10875-021-01008-4

Abstract: PURPOSE Familial Mediterranean Fever (FMF) and Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis (PAAND) are clinically distinct autoinflammatory disorders caused by mutations in the pyrin-encoding gene MEFV. We investigated the transcriptional, phenotypical, and functional characteristics of patient… read more here.

Keywords: fmf patients; pyrin associated; inflammatory; expression ... See more keywords
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A novel Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis mutation further defines 14-3-3 binding of pyrin and distinction to Familial Mediterranean Fever

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Published in 2017 at "Annals of the Rheumatic Diseases"

DOI: 10.1136/annrheumdis-2017-211473

Abstract: Objective Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis (PAAND) is a recently described monogenic autoinflammatory disease. The causal p.S242R MEFV mutation disrupts a binding motif of the regulatory 14-3-3 proteins within pyrin. Here, we investigate a family… read more here.

Keywords: paand; pyrin associated; pyrin; autoinflammation neutrophilic ... See more keywords