Abstracts tagged "inflammation and pathogenesis"

Abstract Number: 195 • ACR/ARHP Annual Meeting 2015
Activation of the Pyrin Inflammasome through the RhoA Signaling Pathway in Familial Mediterranean Fever (FMF) and Hyperimmunoglobulinemia D Syndrome (HIDS)
Yong Hwan Park, Geryl Wood, Daniel Kastner and Jae Jin Chae, Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch, NIH/NHGRI, Bethesda, MD
Background/Purpose: Mutations in the genes encoding pyrin and mevalonate kinase (MVK) cause the autoinflammatory diseases familial Mediterranean fever (FMF) and hyperimmunoglobulinemia D syndrome (HIDS), respectively. …
Abstract Number: 1817 • ACR/ARHP Annual Meeting 2014
Connecting Two Pathways through Ca²⁺ Signaling: NLRP3 Inflammasome Activation Induced By a Hypermorphic PLCG2 Mutation
Jae Jin Chae¹, Yong Hwan Park¹, Chung Park², Il-Young Hwang², Patrycja Hoffmann³, John Kehrl², Ivona Aksentijevich³ and Daniel L. Kastner⁴, ¹Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, ²National Institute of Allergy and Infectious Diseases, Bethesda, MD, ³Inflammatory Diseases Section, National Human Genome Research Institute, Bethesda, MD, ⁴Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD
Background/Purpose Previously, we reported that a novel variant, p.Ser707Tyr, in phospholipase Cγ2 (PLCγ2) is the cause of a dominantly inherited autoinflammatory disease, APLAID (autoinflammation and…