An unusual phenotype in Muckle-Wells syndrome associated with NLRP3 E311K.
Murphy
Grainne
G
Daly
Mary
M
O'Sullivan
Miriam
M
Stack
John
J
Rowczenio
Dorota
D
Lachmann
Helen
H
Shanahan
Fergus
F
Harney
Sinead
S
Hawkins
Philip
P
Molloy
Michael
M
D000328:Adult; D018501:Antirheumatic Agents / Q000627:therapeutic use*; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D056587:Cryopyrin-Associated Periodic Syndromes / Q000235:genetics*; D005260:Female; D006801:Humans; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use*; D008297:Male; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D010375:Pedigree; D010641:Phenotype; D055815:Young Adult
D018501:Antirheumatic Agents; D002352:Carrier Proteins; D053590:Interleukin 1 Receptor Antagonist Protein; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human