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Aberrant actin depolymerization triggers the pyrin inflammasome and autoinflammatory disease that is dependent on IL-18, not IL-1β.

artículo científico publicado en 2015

Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.

artículo científico publicado en 2018

Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis

scientific article published on 29 June 2020

Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease

scientific journal article

Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease

artículo científico publicado en 2017

Connecting two pathways through Ca 2+ signaling: NLRP3 inflammasome activation induced by a hypermorphic PLCG2 mutation

artículo científico publicado en 2015

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease

artículo científico publicado en 2015

NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy

artículo científico publicado en 2017

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