UNC13D mutation in a patient with juvenile polymyositis with recurrent macrophage activation syndrome

Rheumatology (Oxford). 2021 Nov 3;60(11):e404-e406. doi: 10.1093/rheumatology/keab391.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Antirheumatic Agents / administration & dosage
  • Autoantibodies / blood
  • Bone Marrow Examination / methods
  • Cyclosporine / administration & dosage*
  • Etoposide / administration & dosage*
  • Homozygote
  • Humans
  • Macrophage Activation Syndrome* / blood
  • Macrophage Activation Syndrome* / diagnosis
  • Macrophage Activation Syndrome* / etiology
  • Macrophage Activation Syndrome* / therapy
  • Male
  • Membrane Proteins / genetics*
  • Methylprednisolone / administration & dosage*
  • Mutation, Missense
  • Patient Care Planning
  • Polymyositis* / blood
  • Polymyositis* / drug therapy
  • Polymyositis* / genetics
  • Polymyositis* / physiopathology
  • Positron Emission Tomography Computed Tomography / methods*
  • Remission Induction / methods
  • Topoisomerase II Inhibitors / administration & dosage
  • Treatment Outcome

Substances

  • Antirheumatic Agents
  • Autoantibodies
  • Membrane Proteins
  • Topoisomerase II Inhibitors
  • UNC13D protein, human
  • Etoposide
  • Cyclosporine
  • Methylprednisolone