Disease: Autoinflammatory disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3267073
Disease: Autoinflammatory disease
Autoinflammatory disease 		0.020 Biomarker disease BEFREE Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease. 31827281 2020
CUI: C3267073
Disease: Autoinflammatory disease
Autoinflammatory disease 		0.020 GeneticVariation disease BEFREE Together, these data suggest that human non-cleavable RIPK1 variants promote activation of RIPK1, and lead to an autoinflammatory disease characterized by hypersensitivity to apoptosis and necroptosis and increased inflammatory response in peripheral blood mononuclear cells, as well as a compensatory mechanism to protect against several pro-death stimuli in fibroblasts. 31827280 2020