Abstracts tagged "Autoinflammation and innate immunity"

Abstract Number: 1027 • 2018 ACR/ARHP Annual Meeting
A Novel IL-1 Mediated Autoinflammatory Disease Caused By a Specific Gain-of-Function Mutation in Dysferlin
Farzana Bhuyan¹, Adriana Almeida de Jesus¹, Gina A. Montealegre Sanchez¹, Deborah Consolini², Ronit Herzog³, Steven Holland⁴ and Raphaela Goldbach-Mansky¹, ¹Translational Autoinflammatory Disease Section (TADS), Laboratory of Clinical Investigation and Microbiology (LCIM), NIAID/NIH, Bethesda, MD, ²A.I.duPont Hospital for Children, Wilmington, DE, ³NYU Langone Medical Center, New York, NY, ⁴Division of Intramural Research, NIAID/NIH, Bethesda, MD
Background/Purpose: Genetically defined IL-1 mediated autoinflammatory diseases are caused by monogenic defects that regulate inflammasome activity. By whole exome sequencing (WES) analysis we identified one…

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Abstracts tagged "Autoinflammation and innate immunity"

A Novel IL-1 Mediated Autoinflammatory Disease Caused By a Specific Gain-of-Function Mutation in Dysferlin