Thrombotic thrombocytopenic purpura and defective apoptosis due to CASP8/10 mutations: the role of mycophenolate mofetil

Blood Adv. 2019 Nov 12;3(21):3432-3435. doi: 10.1182/bloodadvances.2019000575.

Abstract

  1. Immunological dysregulation may underlie unusual autoimmune diseases, which also deserve to be investigated from a genetic point of view.

Publication types

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

MeSH terms

  • ADAMTS13 Protein / genetics
  • ADAMTS13 Protein / metabolism
  • Adolescent
  • Antibiotics, Antineoplastic / adverse effects
  • Antibiotics, Antineoplastic / therapeutic use
  • Apoptosis / genetics*
  • Biomarkers
  • Caspase 10 / genetics*
  • Caspase 10 / metabolism
  • Caspase 8 / genetics*
  • Caspase 8 / metabolism
  • Disease Susceptibility
  • Female
  • Humans
  • Mutation*
  • Mycophenolic Acid / adverse effects
  • Mycophenolic Acid / therapeutic use
  • Proteolysis
  • Purpura, Thrombotic Thrombocytopenic / diagnosis*
  • Purpura, Thrombotic Thrombocytopenic / drug therapy
  • Purpura, Thrombotic Thrombocytopenic / etiology*

Substances

  • Antibiotics, Antineoplastic
  • Biomarkers
  • CASP8 protein, human
  • Caspase 10
  • Caspase 8
  • CASP10 protein, human
  • ADAMTS13 Protein
  • Mycophenolic Acid