Article
A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis).
Annals of the rheumatic diseases - 1 Jul 2017
Grandemange Sylvie, Sanchez Elodie, Louis-Plence Pascale, Tran Mau-Them Frédéric, Bessis Didier, Coubes Christine, Frouin Eric, Seyger Marieke, Girard Manon, Puechberty Jacques, Costes Valérie, Rodière Michel, Carbasse Aurélia, Jeziorski Eric, Portales Pierre, Sarrabay Guillaume, Mondain Michel, Jorgensen Christian, Apparailly Florence, Hoppenreijs Esther, Touitou Isabelle, Geneviève David
Abstract excerpt
OBJECTIVES: Inflammasomes are multiprotein complexes that sense pathogens and trigger biological mechanisms to control infection. Nucleotide-binding oligomerisation domain-like receptor (NLR) containing a PYRIN domain 1 (NLRP1), NLRP3 and NLRC4 plays a key role in this innate immune system by directly assembling in inflammasomes and regulating inflammation. Mutations in NLRP3 and NLRC4 are linked to hereditary...
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