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194 : Interferon Gone Wrong: A Case Report of a Child Presenting with Polyarthritis and Chilblains Due to a SAMHD1 Gene Mutation

Researchers

Presenter

  • Ann Yeh

Principal Investigators

  • Elena Pope

  • Christian Marshall

  • Peter Kannu

  • Ben Wang

  • Eleanor Fish

  • Ronald Laxer

Medical Centers

  • Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada,

  • Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada,

  • Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada,

  • Dept. Immunology, University of Toronto & Toronto General Research Institute, UHN, Toronto,Canada

  • Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada,

  • Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, ON, Canada

  • Dept. Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto,Canada

Locations

  • Canada

Companies

  • N/A

Study Components

Therapeutic Area

  • Pulmonary/Respiratory Diseases

Disease

  • Erythema multiforme

  • Isolated short stature

  • Chilblains

  • Inflammatory Arthritis

  • Chronic obstructive pulmonary disease

Biomarkers

  • Peripheral blood mononuclear cell

  • Jagged canonical Notch ligand 1

  • TNF Receptor Superfamily Member 1B

  • Interferon

Drug/Treatment

  • fusidic acid

  • Methotrexate

  • Tasocitinib

  • Etanercept

  • CHS-0214

  • Nifedipine

  • Interferon

  • Naproxen Sodium

Outcome

  • Unknown

Study Design

  • N/A

Phase

  • NA

Study Id's

  • N/A

Sponsors

  • N/A

Result

  • Interim

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