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567 : Gain-of-Function Mutations in Lyn Kinase Cause a Novel Autoinflammatory Disease with Small Vessel Vasculitis and Liver Fibrosis

Researchers

Presenter

  • Adriana Almeida de Jesus

Principal Investigators

  • Dan Yang

  • Tomas Brdicka

  • Natasha Ruth

  • David Bennin

  • Dita Cebecauerova

  • Hana Malcova

  • Helen Freeman

  • Neil Martin

  • Karel Svojgr

  • Murray Passo

  • Farzana Bhuyan

  • Sara Alehashemi

  • Andre Rastegar

  • Kat Uss

  • Lela Kardova

  • Iris Duric

  • Ebun Omoyinmi

  • Petra Peldova

  • Chyi-Chia Richard Lee

  • David Kleiner

  • Colleen Hadigan

  • Stephen Hewitt

  • Stefania Pittaluga

  • Carmelo Carmona-Rivera

  • Katherine R. Calvo

  • Nirali Shah

  • Miroslava Balascakova

  • Danielle Fink

  • Radana Kotalova

  • Zuzana Parackova

  • Lucie Peterkova

  • Daniela Kuzilkova

  • Vit Campr

  • Lucie Sramkova

  • Stephen Brooks

  • Eric Meffre

  • Rebecca Harper

  • Hyesun Kuehn

  • Mariana Kaplan

  • Paul Brogan

  • Sergio Rosenzweig

  • Zuoming Deng

  • Anna Huttenlocher

  • Susan Moir

  • Douglas Kuhns

  • Manfred Boehm

  • Karolina Skvarova Kramarzova

  • Raphaela Goldbach-Mansky

Medical Centers

  • NIAID, NIH, Silver Spring, MD

  • The National Heart Lung and Blood Institute, the National Institute of Health, North Bethesda, MD

  • Laboratory of Leukocyte Signaling, Institute of Molecular Genetics of the Academy of Sciences of Czech Republic (ASCR), Prague, Czech Republic

  • Medcl Univ of South Carolina, Charleston, SC

  • Departments of Pediatrics and Medical Microbiology and Immunology, University of Wisconsin-Madison, Madison, WI

  • 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic

  • 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic

  • Raigmore Hospital, Inverness, United Kingdom

  • Royal Hospital for Sick Children, Glasgow, United Kingdom

  • National Institute of Health, Bethesda, MD

  • NIH/NIAID/TADS, Clarksville, MD

  • National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD

  • Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom

  • National Human Genome Research Institute, National Institutes of Health, Bethesda, MD

  • Clinical Center, National Institutes of Health, Bethesda, MD

  • National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD

  • National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD

  • Yale University, New Haven, CT

  • UCL Institute of Child Health and Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom

  • 2nd Faculty of Medicine, Charles University, University Hospital Moto

  • NIH/NIAID, Potomac, MD

Locations

  • Uruguay

  • United States

  • Czech Republic

  • United Kingdom

Companies

  • N/A

Study Components

Therapeutic Area

  • Autoimmune (AI)

  • Genetic Disorder

Disease

  • Anti-neutrophil cytoplasmic antibody-associated vasculitis

  • Hepatic fibrosis

Biomarkers

  • N/A

Drug/Treatment

  • L-Tyrosine

Outcome

  • N/A

Study Design

  • N/A

Phase

  • N/A

Study Id's

  • NCT02974595

Sponsors

  • N/A

Result

  • N/A

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