Novel Case of Tripeptidyl Peptidase 2 Deficiency Associated with Mild Clinical Phenotype

J Clin Immunol. 2021 Jul;41(5):1123-1127. doi: 10.1007/s10875-021-01006-6. Epub 2021 Mar 8.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Aminopeptidases / deficiency*
  • Aminopeptidases / genetics
  • Dipeptidyl-Peptidases and Tripeptidyl-Peptidases / deficiency*
  • Dipeptidyl-Peptidases and Tripeptidyl-Peptidases / genetics
  • Female
  • Humans
  • Immunologic Deficiency Syndromes* / drug therapy
  • Immunologic Deficiency Syndromes* / genetics
  • Immunologic Deficiency Syndromes* / immunology
  • Immunosuppressive Agents / therapeutic use
  • Mutation
  • Phenotype
  • Purpura, Thrombocytopenic, Idiopathic* / diagnosis
  • Purpura, Thrombocytopenic, Idiopathic* / drug therapy
  • Purpura, Thrombocytopenic, Idiopathic* / genetics
  • Purpura, Thrombocytopenic, Idiopathic* / immunology
  • Serine Endopeptidases / deficiency*
  • Serine Endopeptidases / genetics
  • Sirolimus / therapeutic use
  • T-Lymphocytes / immunology

Substances

  • Immunosuppressive Agents
  • Aminopeptidases
  • Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
  • tripeptidyl-peptidase 2
  • Serine Endopeptidases
  • Sirolimus