Sign Up to like & get
recommendations!
0
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
Sign Up to like & get
recommendations!
0
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